Item | Value |
---|---|
geneid | 51750 |
ensemblid | ENSG00000258366.12 |
hgncid | 15888 |
symbol | RTEL1 |
name | regulator of telomere elongation helicase 1 |
refseq_nuc | NM_001283009.2 |
refseq_prot | NP_001269938.1 |
ensembl_nuc | ENST00000360203.11 |
ensembl_prot | ENSP00000353332.5 |
mane_status | MANE Select |
chr | chr20 |
start | 63658312 |
end | 63696245 |
strand | + |
ver | v1.2 |
region | chr20:63658312-63696245 |
region5000 | chr20:63653312-63701245 |
regionname0 | RTEL1_chr20_63658312_63696245 |
regionname5000 | RTEL1_chr20_63653312_63701245 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 1300 | 44 | 27 | 10 | 1 | 3 | 3 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0002 | 1/0 | 1300 | 4 | 0 | 0 | 1 | 1 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0003 | 0/0 | 1300 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0004 | 0/0 | 1300 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0005 | 0/0 | 1300 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0006 | 0/0 | 795 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0007 | 0/0 | 1300 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0008 | 0/0 | 1300 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0009 | 0/0 | 1300 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0010 | 0/0 | 1300 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0011 | 0/0 | 1300 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0012 | 0/1 | 1300 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 3903 | 30 | 22 | 4 | 0 | 2 | 2 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0002 | 0/0 | 3903 | 4 | 0 | 2 | 0 | 1 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0003 | 0/0 | 3903 | 3 | 3 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0004 | 1/0 | 3903 | 3 | 0 | 0 | 1 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0005 | 0/0 | 3903 | 2 | 2 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0006 | 0/0 | 3903 | 2 | 2 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0007 | 0/0 | 3903 | 2 | 0 | 2 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0008 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0009 | 0/0 | 3893 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0010 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0011 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0012 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0013 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0014 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0015 | 0/0 | 3903 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0016 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0017 | 0/0 | 3903 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0018 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0019 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0020 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
c0021 | 0/1 | 3903 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/1 | 713 | 32 | 17 | 9 | 1 | 3 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
t0002 | 0/0 | 713 | 19 | 12 | 5 | 0 | 0 | 2 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
t0003 | 0/0 | 713 | 5 | 5 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
t0004 | 1/0 | 713 | 4 | 0 | 0 | 1 | 1 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0025 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 3903 | 30 | 22 | 4 | 0 | 2 | 2 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0002 | 0/0 | 3903 | 4 | 0 | 2 | 0 | 1 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0003 | 0/0 | 3903 | 3 | 3 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0007 | 0/0 | 3903 | 2 | 0 | 2 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0011 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0012 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0014 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0016 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0017 | 0/0 | 3903 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0002c0004 | 1/0 | 3903 | 3 | 0 | 0 | 1 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0002c0015 | 0/0 | 3903 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0003c0005 | 0/0 | 3903 | 2 | 2 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0004c0006 | 0/0 | 3903 | 2 | 2 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0005c0018 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0006c0009 | 0/0 | 3893 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0007c0008 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0008c0013 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0009c0010 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0010c0019 | 0/0 | 3903 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0011c0020 | 0/0 | 3903 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0012c0021 | 0/1 | 3903 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 4615 | 15 | 9 | 4 | 0 | 2 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0001t0002 | 0/0 | 4615 | 10 | 8 | 0 | 0 | 0 | 2 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0001t0003 | 0/0 | 4615 | 5 | 5 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0002t0001 | 0/0 | 4615 | 4 | 0 | 2 | 0 | 1 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0003t0001 | 0/0 | 4615 | 3 | 3 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0007t0001 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0007t0002 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0011t0002 | 0/0 | 4615 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0012t0002 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0014t0002 | 0/0 | 4615 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0016t0002 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0001c0017t0001 | 0/0 | 4615 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0002c0004t0004 | 1/0 | 4615 | 3 | 0 | 0 | 1 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0002c0015t0004 | 0/0 | 4615 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0003c0005t0001 | 0/0 | 4615 | 2 | 2 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0004c0006t0001 | 0/0 | 4615 | 2 | 2 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0005c0018t0002 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0006c0009t0002 | 0/0 | 4605 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0007c0008t0001 | 0/0 | 4615 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0008c0013t0002 | 0/0 | 4615 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0009c0010t0001 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0010c0019t0002 | 0/0 | 4615 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0011c0020t0001 | 0/0 | 4615 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
a0012c0021t0001 | 0/1 | 4615 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | copy fasta | chr20 | 63653312 | 63701245 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0003g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0003g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0003g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0001t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0002t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0003t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0003t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0003t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0007t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0007t0002g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0011t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0012t0002g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0014t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0016t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0001c0017t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0002c0004t0004g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0002c0004t0004g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0002c0004t0004g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0002c0015t0004g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0003c0005t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0003c0005t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0004c0006t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0004c0006t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0005c0018t0002g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0006c0009t0002g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0007c0008t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0008c0013t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0009c0010t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0010c0019t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0011c0020t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
a0012c0021t0001g0025 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00621 | hp1 | a0001 | c0017 | t0001 | g0053 | EAS | CHS | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG00621 | hp2 | a0002 | c0004 | t0004 | g0002 | EAS | CHS | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG00642 | hp1 | a0001 | c0002 | t0001 | g0056 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0046 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01069 | hp1 | a0001 | c0016 | t0002 | g0023 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01069 | hp2 | a0001 | c0012 | t0002 | g0005 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01074 | hp2 | a0006 | c0009 | t0002 | g0017 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01106 | hp2 | a0005 | c0018 | t0002 | g0018 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01167 | hp2 | a0009 | c0010 | t0001 | g0033 | AMR | PUR | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01258 | hp1 | a0001 | c0007 | t0002 | g0012 | AMR | CLM | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01258 | hp2 | a0011 | c0020 | t0001 | g0024 | AMR | CLM | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01361 | hp1 | a0001 | c0007 | t0001 | g0032 | AMR | CLM | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01361 | hp2 | a0001 | c0002 | t0001 | g0057 | AMR | CLM | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0034 | EUR | IBS | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG01516 | hp2 | a0002 | c0004 | t0004 | g0003 | EUR | IBS | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02258 | hp1 | a0004 | c0006 | t0001 | g0037 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0047 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02280 | hp1 | a0001 | c0001 | t0002 | g0021 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02280 | hp2 | a0001 | c0001 | t0003 | g0039 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02451 | hp1 | a0001 | c0003 | t0001 | g0027 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02451 | hp2 | a0001 | c0001 | t0002 | g0007 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02622 | hp1 | a0001 | c0001 | t0003 | g0042 | AFR | GWD | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02630 | hp2 | a0010 | c0019 | t0002 | g0014 | AFR | GWD | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02886 | hp1 | a0003 | c0005 | t0001 | g0060 | AFR | GWD | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02886 | hp2 | a0001 | c0001 | t0003 | g0048 | AFR | GWD | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02922 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | ESN | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02922 | hp2 | a0001 | c0001 | t0002 | g0010 | AFR | ESN | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03017 | hp1 | a0001 | c0001 | t0002 | g0019 | SAS | PJL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03017 | hp2 | a0002 | c0015 | t0004 | g0004 | SAS | PJL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03130 | hp1 | a0001 | c0014 | t0002 | g0006 | AFR | ESN | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03130 | hp2 | a0008 | c0013 | t0002 | g0015 | AFR | ESN | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03225 | hp1 | a0001 | c0001 | t0002 | g0022 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03239 | hp1 | a0001 | c0002 | t0001 | g0058 | SAS | PJL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03239 | hp2 | a0001 | c0001 | t0002 | g0016 | SAS | PJL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03453 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03486 | hp1 | a0001 | c0011 | t0002 | g0008 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03486 | hp2 | a0001 | c0001 | t0001 | g0049 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03516 | hp1 | a0001 | c0003 | t0001 | g0028 | AFR | ESN | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03516 | hp2 | a0003 | c0005 | t0001 | g0051 | AFR | ESN | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA18522 | hp1 | a0007 | c0008 | t0001 | g0026 | AFR | YRI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA18522 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | YRI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA18906 | hp1 | a0001 | c0001 | t0002 | g0020 | AFR | YRI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0043 | AFR | YRI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA19240 | hp1 | a0001 | c0003 | t0001 | g0029 | AFR | YRI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA19240 | hp2 | a0001 | c0001 | t0003 | g0038 | AFR | YRI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA20752 | hp1 | a0001 | c0002 | t0001 | g0055 | EUR | TSI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
NA20752 | hp2 | a0001 | c0001 | t0001 | g0035 | EUR | TSI | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0059 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG02559 | hp2 | a0004 | c0006 | t0001 | g0036 | AFR | ACB | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03471 | hp1 | a0001 | c0001 | t0003 | g0040 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
HG03471 | hp2 | a0001 | c0001 | t0002 | g0011 | AFR | MSL | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
homoSapiens_chm13v2 | hp1 | a0012 | c0021 | t0001 | g0025 | REF | REF | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
homoSapiens_grch38 | hp1 | a0002 | c0004 | t0004 | g0001 | REF | REF | RTEL1_chr20_63653312_63701245 | RTEL1 | chr20 | 63653312 | 63701245 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:63661919
|
A | G | 2 | a0011a0012 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
missense_variant | MODERATE | c.371A>G | p.Asn124Ser | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 4/35 | 696/4615 | 371/3903 | 124/1300 | chr20 | 63661919 | ||
chr20:63667491
|
C | T | 1 | a0010 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.637C>T | p.Arg213Trp | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/35 | 962/4615 | 637/3903 | 213/1300 | chr20 | 63667491 | ||
chr20:63688532
|
G | A | 1 | a0003 | 2 | HG02886.hp1 HG03516.hp2 |
missense_variant | MODERATE | c.1727G>A | p.Arg576His | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 21/35 | 2052/4615 | 1727/3903 | 576/1300 | chr20 | 63688532 | ||
chr20:63689530
|
C | T | 1 | a0005 | 1 | HG01106.hp2 | missense_variant | MODERATE | c.1907C>T | p.Thr636Met | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 23/35 | 2232/4615 | 1907/3903 | 636/1300 | chr20 | 63689530 | ||
chr20:63690130
|
CGTCCCCA others(3): Show |
C | 1 | a0006 | 1 | HG01074.hp2 | frameshift_variant | HIGH | c.2186_2195delGTCCCC others(4): Show |
p.Arg729fs | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 25/35 | 2511/4615 | 2186/3903 | 729/1300 | chr20 | 63690130 | ||
chr20:63692937
|
G | A | 1 | a0009 | 1 | HG01167.hp2 | missense_variant | MODERATE | c.2785G>A | p.Ala929Thr | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/35 | 3110/4615 | 2785/3903 | 929/1300 | chr20 | 63692937 | ||
chr20:63692975
|
G | C | 1 | a0007 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.2823G>C | p.Glu941Asp | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/35 | 3148/4615 | 2823/3903 | 941/1300 | chr20 | 63692975 | ||
chr20:63694435
|
A | G | 1 | a0010 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.3056A>G | p.Gln1019Arg | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 31/35 | 3381/4615 | 3056/3903 | 1019/1300 | chr20 | 63694435 | ||
chr20:63694480
|
C | A | 1 | a0011 | 1 | HG01258.hp2 | missense_variant | MODERATE | c.3101C>A | p.Pro1034His | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 31/35 | 3426/4615 | 3101/3903 | 1034/1300 | chr20 | 63694480 | ||
chr20:63694757
|
A | C | 11 | a0001a0003a0004others(8): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
missense_variant | MODERATE | c.3126A>C | p.Gln1042His | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 32/35 | 3451/4615 | 3126/3903 | 1042/1300 | chr20 | 63694757 | ||
chr20:63695207
|
G | A | 1 | a0008 | 1 | HG03130.hp2 | missense_variant | MODERATE | c.3485G>A | p.Arg1162Lys | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 33/35 | 3810/4615 | 3485/3903 | 1162/1300 | chr20 | 63695207 | ||
chr20:63695520
|
C | T | 1 | a0004 | 2 | HG02258.hp1 HG02559.hp2 |
missense_variant | MODERATE | c.3692C>T | p.Thr1231Met | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 34/35 | 4017/4615 | 3692/3903 | 1231/1300 | chr20 | 63695520 |
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:63666047
|
T | C | 3 | a0007c0008a0011c0020a0012c0021 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
synonymous_variant | LOW | c.582T>C | p.Ile194Ile | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/35 | 907/4615 | 582/3903 | 194/1300 | chr20 | 63666047 | ||
chr20:63673960
|
G | A | 2 | a0001c0003a0007c0008 | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
synonymous_variant | LOW | c.786G>A | p.Ser262Ser | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/35 | 1111/4615 | 786/3903 | 262/1300 | chr20 | 63673960 | ||
chr20:63674053
|
T | C | 2 | a0001c0003a0007c0008 | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
synonymous_variant | LOW | c.879T>C | p.Gly293Gly | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/35 | 1204/4615 | 879/3903 | 293/1300 | chr20 | 63674053 | ||
chr20:63689576
|
C | T | 1 | a0001c0017 | 1 | HG00621.hp1 | synonymous_variant | LOW | c.1953C>T | p.Arg651Arg | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 23/35 | 2278/4615 | 1953/3903 | 651/1300 | chr20 | 63689576 | ||
chr20:63689615
|
T | C | 18 | a0001c0001a0001c0002a0001c0003others(15): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
synonymous_variant | LOW | c.1992T>C | p.Asp664Asp | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 23/35 | 2317/4615 | 1992/3903 | 664/1300 | chr20 | 63689615 | ||
chr20:63689836
|
C | T | 1 | a0001c0002 | 4 | HG00642.hp1 HG01361.hp2 HG03239.hp1 others(1): Show |
synonymous_variant | LOW | c.2112C>T | p.Asp704Asp | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 24/35 | 2437/4615 | 2112/3903 | 704/1300 | chr20 | 63689836 | ||
chr20:63690302
|
G | A | 17 | a0001c0001a0001c0002a0001c0003others(14): Show | 54 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(51): Show |
synonymous_variant | LOW | c.2274G>A | p.Ala758Ala | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 26/35 | 2599/4615 | 2274/3903 | 758/1300 | chr20 | 63690302 | ||
chr20:63690935
|
T | C | 18 | a0001c0001a0001c0002a0001c0003others(15): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
synonymous_variant | LOW | c.2544T>C | p.Pro848Pro | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/35 | 2869/4615 | 2544/3903 | 848/1300 | chr20 | 63690935 | ||
chr20:63692936
|
C | T | 3 | a0001c0007a0001c0016a0002c0015 | 4 | HG01069.hp1 HG01258.hp1 HG01361.hp1 others(1): Show |
synonymous_variant | LOW | c.2784C>T | p.Phe928Phe | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/35 | 3109/4615 | 2784/3903 | 928/1300 | chr20 | 63692936 | ||
chr20:63695206
|
A | C | 1 | a0008c0013 | 1 | HG03130.hp2 | synonymous_variant | LOW | c.3484A>C | p.Arg1162Arg | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 33/35 | 3809/4615 | 3484/3903 | 1162/1300 | chr20 | 63695206 | ||
chr20:63695389
|
G | A | 1 | a0001c0011 | 1 | HG03486.hp1 | synonymous_variant | LOW | c.3561G>A | p.Gln1187Gln | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 34/35 | 3886/4615 | 3561/3903 | 1187/1300 | chr20 | 63695389 | ||
chr20:63695846
|
A | G | 1 | a0001c0012 | 1 | HG01069.hp2 | synonymous_variant | LOW | c.3891A>G | p.Pro1297Pro | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 35/35 | 4216/4615 | 3891/3903 | 1297/1300 | chr20 | 63695846 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:63659310
|
C | T | 12 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | 37 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(34): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-93C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/35 | chr20 | 63659310 | ||||||
chr20:63695879
|
C | T | 1 | a0001c0001t0003 | 5 | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*21C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 35/35 | 21 | chr20 | 63695879 | |||||
chr20:63696229
|
G | A | 22 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*371G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 35/35 | 371 | chr20 | 63696229 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:63658840 | G | T | 31 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(28): Show | 31 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.-171+374G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 1/34 | chr20 | 63658840 | ||||||
chr20:63659165 | A | G | 1 | a0003c0005t0001g0060 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-170-68A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 1/34 | chr20 | 63659165 | ||||||
chr20:63659655 | A | G | 56 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(53): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.102+151A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63659655 | ||||||
chr20:63659810 | G | GC | 18 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0010others(15): Show | 18 | HG01069.hp2 HG01074.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.102+307dupC | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 63659810 | |||||
chr20:63659821 | A | G | 37 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(34): Show | 37 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.102+317A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63659821 | ||||||
chr20:63660085 | T | C | 56 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(53): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.102+581T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660085 | ||||||
chr20:63660414 | G | T | 7 | a0001c0001t0002g0016a0001c0001t0002g0019a0001c0001t0002g0020others(4): Show | 7 | HG01074.hp2 HG01106.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.103-884G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660414 | ||||||
chr20:63660477 | C | T | 3 | a0002c0004t0004g0002a0002c0004t0004g0003a0002c0015t0004g0004 | 3 | HG00621.hp2 HG01516.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.103-821C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660477 | ||||||
chr20:63660616 | T | G | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.103-682T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660616 | ||||||
chr20:63660784 | C | T | 31 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(28): Show | 31 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.103-514C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660784 | ||||||
chr20:63660888 | C | T | 1 | a0001c0001t0001g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.103-410C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660888 | ||||||
chr20:63660901 | C | T | 1 | a0001c0001t0001g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.103-397C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63660901 | ||||||
chr20:63661056 | T | C | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.103-242T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63661056 | ||||||
chr20:63661094 | G | A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.103-204G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63661094 | ||||||
chr20:63661292 | G | A | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02451.hp1 HG03516.hp1 NA19240.hp1 |
splice_region_variant&intron_variant | LOW | c.103-6G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 2/34 | chr20 | 63661292 | ||||||
chr20:63661765 | C | T | 4 | a0001c0002t0001g0055a0001c0002t0001g0056a0001c0002t0001g0057others(1): Show | 4 | HG00642.hp1 HG01361.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-85C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 3/34 | chr20 | 63661765 | ||||||
chr20:63662107 | T | C | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.395+164T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 4/34 | chr20 | 63662107 | ||||||
chr20:63662175 | C | T | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02451.hp1 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.395+232C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 4/34 | chr20 | 63662175 | ||||||
chr20:63662386 | C | T | 1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.396-160C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 4/34 | chr20 | 63662386 | ||||||
chr20:63662646 | G | A | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02451.hp1 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.477+19G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662646 | ||||||
chr20:63662662 | C | T | 31 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(28): Show | 31 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.477+35C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662662 | ||||||
chr20:63662670 | G | A | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.477+43G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662670 | ||||||
chr20:63662709 | G | A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.477+82G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662709 | ||||||
chr20:63662741 | T | C | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.478-88T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662741 | ||||||
chr20:63662777 | C | T | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.478-52C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662777 | ||||||
chr20:63662805 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.478-24C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 5/34 | chr20 | 63662805 | ||||||
chr20:63663049 | A | T | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.538+160A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663049 | ||||||
chr20:63663094 | G | A | 1 | a0001c0012t0002g0005 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.538+205G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663094 | ||||||
chr20:63663323 | C | T | 1 | a0008c0013t0002g0015 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.538+434C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663323 | ||||||
chr20:63663356 | T | C | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.538+467T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663356 | ||||||
chr20:63663503 | C | T | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.538+614C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663503 | ||||||
chr20:63663513 | T | C | 1 | a0001c0001t0001g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.538+624T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663513 | ||||||
chr20:63663576 | GCTCATCA others(6): Show |
G | 2 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | HG01167.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.538+689_538+701del others(13): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr20 | 63663576 | |||||
chr20:63663608 | G | T | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.538+719G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663608 | ||||||
chr20:63663765 | G | T | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.538+876G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663765 | ||||||
chr20:63663866 | C | T | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.538+977C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663866 | ||||||
chr20:63663888 | A | G | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.538+999A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63663888 | ||||||
chr20:63664021 | T | C | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.538+1132T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664021 | ||||||
chr20:63664109 | T | A | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.538+1220T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664109 | ||||||
chr20:63664154 | A | G | 1 | a0001c0017t0001g0053 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.538+1265A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664154 | ||||||
chr20:63664225 | C | G | 1 | a0001c0001t0001g0052 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.538+1336C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664225 | ||||||
chr20:63664267 | C | A | 2 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | HG01167.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.538+1378C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664267 | ||||||
chr20:63664348 | A | G | 34 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(31): Show | 34 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(31): Show |
intron_variant | MODIFIER | c.538+1459A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664348 | ||||||
chr20:63664436 | T | G | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+1547T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664436 | ||||||
chr20:63664590 | C | T | 31 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(28): Show | 31 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.539-1414C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664590 | ||||||
chr20:63664594 | G | C | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-1410G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664594 | ||||||
chr20:63664861 | G | C | 31 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(28): Show | 31 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.539-1143G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664861 | ||||||
chr20:63664894 | C | T | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-1110C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664894 | ||||||
chr20:63664900 | C | T | 3 | a0001c0001t0001g0050a0003c0005t0001g0051a0003c0005t0001g0060 | 3 | HG02622.hp2 HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.539-1104C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664900 | ||||||
chr20:63664910 | G | C | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-1094G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664910 | ||||||
chr20:63664943 | G | A | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.539-1061G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664943 | ||||||
chr20:63664996 | C | T | 1 | a0002c0004t0004g0003 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.539-1008C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63664996 | ||||||
chr20:63665109 | A | AGT | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-880_539-879dup others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr20 | 63665109 | |||||
chr20:63665234 | G | A | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.539-770G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63665234 | ||||||
chr20:63665240 | T | G | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.539-764T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63665240 | ||||||
chr20:63665303 | A | G | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-701A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63665303 | ||||||
chr20:63665328 | A | G | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-676A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63665328 | ||||||
chr20:63665640 | G | A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.539-364G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 6/34 | chr20 | 63665640 | ||||||
chr20:63666203 | C | T | 3 | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022 | 3 | HG02280.hp1 HG03225.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.614+124C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666203 | ||||||
chr20:63666407 | A | G | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.614+328A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666407 | ||||||
chr20:63666415 | A | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.614+336A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666415 | ||||||
chr20:63666449 | A | G | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.614+370A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666449 | ||||||
chr20:63666465 | C | T | 1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.614+386C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666465 | ||||||
chr20:63666683 | A | G | 59 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(56): Show | 59 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.614+604A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666683 | ||||||
chr20:63666691 | A | G | 3 | a0007c0008t0001g0026a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.614+612A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666691 | ||||||
chr20:63666863 | G | T | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.615-606G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666863 | ||||||
chr20:63666874 | C | G | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02451.hp1 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.615-595C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666874 | ||||||
chr20:63666934 | A | G | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.615-535A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666934 | ||||||
chr20:63666984 | T | C | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.615-485T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666984 | ||||||
chr20:63666996 | C | T | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.615-473C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63666996 | ||||||
chr20:63667051 | G | A | 30 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0041others(27): Show | 30 | HG00642.hp1 HG01069.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.615-418G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667051 | ||||||
chr20:63667061 | G | A | 4 | a0001c0001t0001g0046a0001c0017t0001g0053a0011c0020t0001g0024others(1): Show | 4 | HG00621.hp1 HG00642.hp2 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.615-408G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667061 | ||||||
chr20:63667066 | T | C | 4 | a0001c0001t0001g0046a0001c0017t0001g0053a0011c0020t0001g0024others(1): Show | 4 | HG00621.hp1 HG00642.hp2 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.615-403T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667066 | ||||||
chr20:63667074 | T | C | 4 | a0001c0001t0001g0046a0001c0017t0001g0053a0011c0020t0001g0024others(1): Show | 4 | HG00621.hp1 HG00642.hp2 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.615-395T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667074 | ||||||
chr20:63667188 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.615-281G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667188 | ||||||
chr20:63667320 | C | G | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.615-149C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667320 | ||||||
chr20:63667363 | C | A | 1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.615-106C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667363 | ||||||
chr20:63667433 | G | A | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.615-36G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 7/34 | chr20 | 63667433 | ||||||
chr20:63668106 | C | T | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.699+553C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63668106 | ||||||
chr20:63668225 | C | T | 6 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(3): Show | 6 | HG01258.hp2 HG02451.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+672C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63668225 | ||||||
chr20:63668461 | T | C | 59 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(56): Show | 59 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.699+908T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63668461 | ||||||
chr20:63668532 | C | T | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+979C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63668532 | ||||||
chr20:63669453 | A | C | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.699+1900A>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669453 | ||||||
chr20:63669458 | G | T | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.699+1905G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669458 | ||||||
chr20:63669491 | A | G | 1 | a0005c0018t0002g0018 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.699+1938A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669491 | ||||||
chr20:63669553 | G | C | 7 | a0001c0001t0001g0046a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG00642.hp2 HG01258.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.699+2000G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669553 | ||||||
chr20:63669587 | C | T | 6 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(3): Show | 6 | HG01258.hp2 HG02451.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+2034C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669587 | ||||||
chr20:63669630 | T | TGGACAGA others(50): Show |
3 | a0001c0003t0001g0028a0001c0003t0001g0029a0007c0008t0001g0026 | 3 | HG03516.hp1 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.699+2090_699+2091i others(59): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669630 | |||||
chr20:63669630 | TGGACAGA others(50): Show |
T | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.699+2091_699+2147d others(59): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669630 | |||||
chr20:63669644 | A | ACCAAGAT others(107): Show |
2 | a0002c0004t0004g0003a0002c0015t0004g0004 | 2 | HG01516.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.700-2228_700-2115d others(116): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669644 | |||||
chr20:63669644 | A | ACCAAGAT others(278): Show |
1 | a0002c0004t0004g0002 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.700-2399_700-2115d others(287): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669644 | |||||
chr20:63669644 | A | G | 3 | a0001c0003t0001g0028a0001c0003t0001g0029a0007c0008t0001g0026 | 3 | HG03516.hp1 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.699+2091A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669644 | ||||||
chr20:63669644 | ACCAAGAT others(50): Show |
A | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.700-2171_700-2115d others(59): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669644 | |||||
chr20:63669644 | ACCAAGAT others(164): Show |
A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.700-2285_700-2115d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669644 | |||||
chr20:63669656 | G | A | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.699+2103G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669656 | ||||||
chr20:63669684 | A | ATCCGGAC others(50): Show |
3 | a0001c0003t0001g0028a0001c0003t0001g0029a0007c0008t0001g0026 | 3 | HG03516.hp1 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.699+2187_699+2188i others(59): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669684 | |||||
chr20:63669711 | G | A | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.699+2158G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669711 | ||||||
chr20:63669726 | A | G | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.699+2173A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669726 | ||||||
chr20:63669728 | C | T | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.699+2175C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669728 | ||||||
chr20:63669741 | A | G | 3 | a0001c0003t0001g0028a0001c0003t0001g0029a0007c0008t0001g0026 | 3 | HG03516.hp1 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.699+2188A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669741 | ||||||
chr20:63669798 | A | G | 3 | a0001c0003t0001g0028a0001c0003t0001g0029a0007c0008t0001g0026 | 3 | HG03516.hp1 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.699+2245A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669798 | ||||||
chr20:63669809 | C | T | 2 | a0001c0001t0001g0044a0001c0001t0001g0049 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.699+2256C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669809 | ||||||
chr20:63669815 | GCCAAGAT others(620): Show |
G | 2 | a0003c0005t0001g0051a0003c0005t0001g0060 | 2 | HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.699+2268_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669815 | |||||
chr20:63669825 | G | A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.699+2272G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669825 | ||||||
chr20:63669840 | A | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.699+2287A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669840 | ||||||
chr20:63669842 | C | T | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.699+2289C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669842 | ||||||
chr20:63669855 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+2302A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669855 | ||||||
chr20:63669867 | G | C | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.699+2314G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669867 | ||||||
chr20:63669872 | G | A | 2 | a0001c0001t0001g0044a0001c0001t0001g0049 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.699+2319G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669872 | ||||||
chr20:63669884 | G | A | 2 | a0001c0001t0001g0044a0001c0001t0001g0049 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.699+2331G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669884 | ||||||
chr20:63669912 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+2359A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669912 | ||||||
chr20:63669969 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+2416A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669969 | ||||||
chr20:63669986 | GCCAAGAT others(449): Show |
G | 1 | a0010c0019t0002g0014 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.699+2439_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63669986 | |||||
chr20:63669992 | A | G | 7 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0003g0038others(4): Show | 7 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.699+2439A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669992 | ||||||
chr20:63669996 | G | A | 6 | a0001c0001t0001g0041a0001c0001t0003g0038a0001c0001t0003g0039others(3): Show | 6 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+2443G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63669996 | ||||||
chr20:63670004 | G | A | 6 | a0001c0001t0001g0041a0001c0001t0003g0038a0001c0001t0003g0039others(3): Show | 6 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+2451G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670004 | ||||||
chr20:63670011 | A | G | 6 | a0001c0001t0001g0041a0001c0001t0003g0038a0001c0001t0003g0039others(3): Show | 6 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+2458A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670011 | ||||||
chr20:63670013 | C | G | 6 | a0001c0001t0001g0041a0001c0001t0003g0038a0001c0001t0003g0039others(3): Show | 6 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+2460C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670013 | ||||||
chr20:63670026 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+2473A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670026 | ||||||
chr20:63670037 | C | T | 2 | a0001c0001t0001g0044a0001c0001t0001g0049 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.699+2484C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670037 | ||||||
chr20:63670043 | GCCAAGAT others(392): Show |
G | 10 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0010others(7): Show | 10 | HG01069.hp2 HG01258.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.699+2496_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670043 | |||||
chr20:63670083 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2473A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670083 | ||||||
chr20:63670100 | GCCAAGAT others(335): Show |
G | 26 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(23): Show | 26 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(23): Show |
intron_variant | MODIFIER | c.700-2450_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670100 | |||||
chr20:63670140 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2416A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670140 | ||||||
chr20:63670157 | GCCAAGAT others(278): Show |
G | 7 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(4): Show | 7 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(4): Show |
intron_variant | MODIFIER | c.700-2393_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670157 | |||||
chr20:63670197 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2359A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670197 | ||||||
chr20:63670254 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2302A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670254 | ||||||
chr20:63670271 | GCCAAGAT others(164): Show |
G | 1 | a0001c0001t0002g0020 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.700-2279_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670271 | |||||
chr20:63670311 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2245A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670311 | ||||||
chr20:63670328 | GCCAAGAT others(107): Show |
G | 2 | a0001c0001t0001g0044a0001c0001t0001g0049 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.700-2222_700-2109d others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670328 | |||||
chr20:63670368 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2188A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670368 | ||||||
chr20:63670442 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-2114A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670442 | ||||||
chr20:63670496 | A | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.700-2060A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670496 | ||||||
chr20:63670617 | G | A | 49 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(46): Show | 49 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
intron_variant | MODIFIER | c.700-1939G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670617 | ||||||
chr20:63670627 | T | C | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-1929T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670627 | ||||||
chr20:63670760 | A | T | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.700-1796A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670760 | ||||||
chr20:63670816 | C | CA | 7 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(4): Show | 7 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(4): Show |
intron_variant | MODIFIER | c.700-1725dupA | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670816 | |||||
chr20:63670816 | CAA | C | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-1726_700-1725d others(4): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63670816 | |||||
chr20:63670901 | G | C | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.700-1655G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63670901 | ||||||
chr20:63671143 | T | C | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-1413T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671143 | ||||||
chr20:63671186 | G | A | 49 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(46): Show | 49 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
intron_variant | MODIFIER | c.700-1370G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671186 | ||||||
chr20:63671221 | C | T | 1 | a0002c0004t0004g0003 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.700-1335C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671221 | ||||||
chr20:63671297 | C | G | 56 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(53): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.700-1259C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671297 | ||||||
chr20:63671355 | G | A | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-1201G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671355 | ||||||
chr20:63671435 | G | A | 3 | a0001c0001t0003g0038a0001c0001t0003g0039a0001c0001t0003g0040 | 3 | HG02280.hp2 HG03471.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.700-1121G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671435 | ||||||
chr20:63671648 | AT | A | 21 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(18): Show | 21 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.700-892delT | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63671648 | |||||
chr20:63671724 | C | G | 2 | a0004c0006t0001g0036a0004c0006t0001g0037 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.700-832C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671724 | ||||||
chr20:63671762 | C | A | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.700-794C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671762 | ||||||
chr20:63671923 | G | A | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-633G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63671923 | ||||||
chr20:63672084 | A | ATGT | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.700-469_700-467dup others(3): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | 63672084 | |||||
chr20:63672205 | C | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.700-351C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63672205 | ||||||
chr20:63672269 | T | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.700-287T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63672269 | ||||||
chr20:63672441 | G | A | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-115G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63672441 | ||||||
chr20:63672450 | G | T | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-106G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | chr20 | 63672450 | ||||||
chr20:63672707 | G | C | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.765+86G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63672707 | ||||||
chr20:63672708 | G | T | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.765+87G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63672708 | ||||||
chr20:63672761 | G | C | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.765+140G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63672761 | ||||||
chr20:63672825 | G | C | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.765+204G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63672825 | ||||||
chr20:63672946 | T | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.765+325T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63672946 | ||||||
chr20:63673096 | CA | C | 8 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(5): Show | 8 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.765+486delA | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 63673096 | |||||
chr20:63673113 | A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.765+492A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673113 | ||||||
chr20:63673409 | A | G | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.766-531A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673409 | ||||||
chr20:63673470 | C | A | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.766-470C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673470 | ||||||
chr20:63673477 | C | T | 11 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0010others(8): Show | 11 | HG01069.hp2 HG01258.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.766-463C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673477 | ||||||
chr20:63673539 | A | G | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.766-401A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673539 | ||||||
chr20:63673734 | C | T | 1 | a0006c0009t0002g0017 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.766-206C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673734 | ||||||
chr20:63673921 | G | A | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.766-19G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 9/34 | chr20 | 63673921 | ||||||
chr20:63674129 | T | TGCGCTGC others(84): Show |
4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.919+94_919+95insTG others(89): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63674129 | |||||
chr20:63674433 | C | T | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02451.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.919+340C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63674433 | ||||||
chr20:63674594 | C | T | 31 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(28): Show | 31 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.919+501C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63674594 | ||||||
chr20:63674837 | A | G | 19 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0009others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.919+744A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63674837 | ||||||
chr20:63674849 | G | A | 2 | a0001c0002t0001g0055a0001c0002t0001g0056 | 2 | HG00642.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.919+756G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63674849 | ||||||
chr20:63674855 | C | T | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.919+762C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63674855 | ||||||
chr20:63675057 | A | G | 56 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(53): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.919+964A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63675057 | ||||||
chr20:63675195 | A | G | 6 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(3): Show | 6 | HG01258.hp2 HG02451.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.919+1102A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63675195 | ||||||
chr20:63675404 | C | T | 30 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(27): Show | 30 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.919+1311C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63675404 | ||||||
chr20:63675440 | GT | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.919+1350delT | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63675440 | |||||
chr20:63675502 | TTA | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(40): Show | 43 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(40): Show |
intron_variant | MODIFIER | c.919+1426_919+1427d others(4): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63675502 | |||||
chr20:63675502 | TTATA | T | 13 | a0001c0001t0001g0044a0001c0001t0001g0047a0001c0001t0001g0049others(10): Show | 13 | HG01258.hp2 HG02258.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.919+1424_919+1427d others(6): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63675502 | |||||
chr20:63675522 | A | G | 1 | a0012c0021t0001g0025 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.919+1429A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63675522 | ||||||
chr20:63676164 | A | G | 5 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(2): Show | 5 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.920-1981A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676164 | ||||||
chr20:63676201 | C | T | 7 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0003g0038others(4): Show | 7 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.920-1944C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676201 | ||||||
chr20:63676340 | C | T | 1 | a0001c0001t0002g0020 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.920-1805C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676340 | ||||||
chr20:63676408 | C | T | 10 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(7): Show | 10 | HG01069.hp2 HG01258.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.920-1737C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676408 | ||||||
chr20:63676423 | A | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.920-1722A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676423 | ||||||
chr20:63676585 | C | A | 9 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(6): Show | 9 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.920-1560C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676585 | ||||||
chr20:63676649 | G | A | 1 | a0001c0001t0001g0043 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.920-1496G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676649 | ||||||
chr20:63676679 | T | C | 2 | a0003c0005t0001g0051a0003c0005t0001g0060 | 2 | HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.920-1466T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676679 | ||||||
chr20:63676680 | C | A | 2 | a0003c0005t0001g0051a0003c0005t0001g0060 | 2 | HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.920-1465C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676680 | ||||||
chr20:63676795 | T | C | 3 | a0003c0005t0001g0051a0003c0005t0001g0060a0004c0006t0001g0036 | 3 | HG02559.hp2 HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.920-1350T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676795 | ||||||
chr20:63676803 | T | C | 41 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(38): Show | 41 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.920-1342T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676803 | ||||||
chr20:63676805 | C | G | 41 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(38): Show | 41 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.920-1340C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676805 | ||||||
chr20:63676806 | A | G | 41 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(38): Show | 41 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.920-1339A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676806 | ||||||
chr20:63676807 | T | C | 4 | a0001c0003t0001g0028a0001c0007t0002g0012a0007c0008t0001g0026others(1): Show | 4 | HG01258.hp1 HG03516.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.920-1338T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676807 | ||||||
chr20:63676810 | T | C | 36 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(33): Show | 36 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(33): Show |
intron_variant | MODIFIER | c.920-1335T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676810 | ||||||
chr20:63676892 | A | T | 5 | a0001c0001t0002g0007a0001c0001t0002g0010a0001c0001t0002g0011others(2): Show | 5 | HG01069.hp2 HG02451.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.920-1253A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676892 | ||||||
chr20:63676896 | T | C | 2 | a0001c0001t0001g0041a0010c0019t0002g0014 | 2 | HG02630.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.920-1249T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676896 | ||||||
chr20:63676907 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.920-1238C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676907 | ||||||
chr20:63676909 | T | TG | 39 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(36): Show | 39 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(36): Show |
intron_variant | MODIFIER | c.920-1234dupG | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63676909 | |||||
chr20:63676913 | G | A | 48 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(45): Show | 48 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(45): Show |
intron_variant | MODIFIER | c.920-1232G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676913 | ||||||
chr20:63676920 | C | T | 1 | a0011c0020t0001g0024 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.920-1225C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63676920 | ||||||
chr20:63677001 | C | T | 5 | a0001c0001t0002g0019a0001c0007t0002g0012a0001c0017t0001g0053others(2): Show | 5 | HG00621.hp1 HG00621.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.920-1144C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677001 | ||||||
chr20:63677008 | T | A | 1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.920-1137T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677008 | ||||||
chr20:63677011 | C | A | 4 | a0001c0001t0002g0019a0001c0017t0001g0053a0002c0004t0004g0002others(1): Show | 4 | HG00621.hp1 HG00621.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.920-1134C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677011 | ||||||
chr20:63677042 | G | C | 4 | a0001c0001t0001g0050a0001c0001t0002g0016a0001c0001t0002g0019others(1): Show | 4 | HG00621.hp2 HG02622.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.920-1103G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677042 | ||||||
chr20:63677059 | CA | C | 58 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(55): Show | 58 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(55): Show |
intron_variant | MODIFIER | c.920-1085delA | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677059 | ||||||
chr20:63677077 | C | T | 1 | a0001c0017t0001g0053 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.920-1068C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677077 | ||||||
chr20:63677099 | CTT | C | 37 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0035others(34): Show | 37 | HG00621.hp2 HG00642.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.920-1044_920-1043d others(4): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677099 | |||||
chr20:63677133 | A | G | 41 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(38): Show | 41 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.920-1012A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677133 | ||||||
chr20:63677164 | T | C | 9 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0045others(6): Show | 9 | HG00621.hp2 HG01074.hp1 HG01106.hp1 others(6): Show |
intron_variant | MODIFIER | c.920-981T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677164 | ||||||
chr20:63677204 | T | G | 1 | a0001c0001t0003g0038 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.920-941T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677204 | ||||||
chr20:63677217 | A | G | 45 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0043others(42): Show | 45 | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.920-928A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677217 | ||||||
chr20:63677259 | T | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.920-886T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677259 | ||||||
chr20:63677466 | T | C | 1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.920-679T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677466 | ||||||
chr20:63677476 | A | G | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.920-669A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677476 | ||||||
chr20:63677519 | A | G | 10 | a0001c0001t0001g0041a0001c0001t0001g0050a0001c0001t0001g0059others(7): Show | 10 | HG02280.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.920-626A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677519 | ||||||
chr20:63677662 | C | T | 1 | a0001c0001t0001g0047 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.920-483C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677662 | ||||||
chr20:63677684 | AGCCTCTT others(140): Show |
A | 2 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | HG01167.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.920-448_920-302del | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677684 | |||||
chr20:63677697 | G | GCCTGTTG others(42): Show |
1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.920-201_920-153dup others(49): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677697 | |||||
chr20:63677697 | GCCTGTTG others(42): Show |
G | 2 | a0001c0001t0001g0041a0001c0001t0002g0019 | 2 | HG02630.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.920-201_920-153del others(49): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677697 | |||||
chr20:63677697 | GCCTGTTG others(91): Show |
G | 2 | a0001c0014t0002g0006a0007c0008t0001g0026 | 2 | HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.920-250_920-153del others(98): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677697 | |||||
chr20:63677697 | GCCTGTTG others(140): Show |
G | 39 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0043others(36): Show | 39 | HG00642.hp1 HG00642.hp2 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.920-299_920-153del | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677697 | |||||
chr20:63677697 | GCCTGTTG others(189): Show |
G | 8 | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022others(5): Show | 8 | HG00621.hp1 HG02280.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.920-348_920-153del | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr20 | 63677697 | |||||
chr20:63677895 | C | A | 1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.920-250C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63677895 | ||||||
chr20:63678039 | T | C | 10 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(7): Show | 10 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(7): Show |
intron_variant | MODIFIER | c.920-106T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 10/34 | chr20 | 63678039 | ||||||
chr20:63678201 | C | T | 50 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(47): Show | 50 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.958+18C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 11/34 | chr20 | 63678201 | ||||||
chr20:63678486 | A | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1037+140A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678486 | ||||||
chr20:63678585 | G | GGAACAGC others(14): Show |
43 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(40): Show | 43 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(40): Show |
intron_variant | MODIFIER | c.1037+283_1037+303d others(23): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr20 | 63678585 | |||||
chr20:63678756 | G | A | 57 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(54): Show | 57 | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.1037+410G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678756 | ||||||
chr20:63678761 | ACT | A | 3 | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022 | 3 | HG02280.hp1 HG03225.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1037+419_1037+420d others(4): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr20 | 63678761 | |||||
chr20:63678838 | G | A | 3 | a0001c0001t0001g0041a0001c0014t0002g0006a0007c0008t0001g0026 | 3 | HG02630.hp1 HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1037+492G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678838 | ||||||
chr20:63678842 | C | G | 3 | a0001c0001t0001g0041a0001c0014t0002g0006a0007c0008t0001g0026 | 3 | HG02630.hp1 HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1037+496C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678842 | ||||||
chr20:63678845 | A | T | 3 | a0001c0001t0001g0041a0001c0014t0002g0006a0007c0008t0001g0026 | 3 | HG02630.hp1 HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1037+499A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678845 | ||||||
chr20:63678853 | GGAACAGC others(35): Show |
G | 3 | a0001c0001t0001g0041a0001c0014t0002g0006a0007c0008t0001g0026 | 3 | HG02630.hp1 HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1037+510_1037+551d others(44): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr20 | 63678853 | |||||
chr20:63678887 | A | C | 4 | a0001c0002t0001g0055a0001c0002t0001g0056a0001c0002t0001g0057others(1): Show | 4 | HG00642.hp1 HG01361.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.1037+541A>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678887 | ||||||
chr20:63678896 | G | A | 3 | a0001c0001t0001g0041a0001c0014t0002g0006a0007c0008t0001g0026 | 3 | HG02630.hp1 HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1037+550G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678896 | ||||||
chr20:63678920 | C | T | 3 | a0001c0001t0001g0041a0001c0014t0002g0006a0007c0008t0001g0026 | 3 | HG02630.hp1 HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1037+574C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63678920 | ||||||
chr20:63679164 | C | T | 6 | a0001c0001t0002g0007a0001c0001t0002g0010a0001c0001t0002g0011others(3): Show | 6 | HG01069.hp2 HG01258.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1038-685C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679164 | ||||||
chr20:63679179 | G | T | 1 | a0001c0002t0001g0057 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1038-670G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679179 | ||||||
chr20:63679304 | C | T | 6 | a0001c0001t0001g0043a0001c0001t0003g0038a0001c0001t0003g0039others(3): Show | 6 | HG02280.hp2 HG02622.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1038-545C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679304 | ||||||
chr20:63679453 | C | T | 49 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(46): Show | 49 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
intron_variant | MODIFIER | c.1038-396C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679453 | ||||||
chr20:63679457 | T | C | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1038-392T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679457 | ||||||
chr20:63679468 | CT | C | 6 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0014t0002g0006others(3): Show | 6 | HG01258.hp2 HG02630.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1038-380delT | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679468 | ||||||
chr20:63679519 | T | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1038-330T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679519 | ||||||
chr20:63679610 | C | T | 2 | a0001c0007t0002g0012a0001c0012t0002g0005 | 2 | HG01069.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1038-239C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679610 | ||||||
chr20:63679745 | G | A | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1038-104G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679745 | ||||||
chr20:63679775 | T | G | 6 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(3): Show | 6 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.1038-74T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679775 | ||||||
chr20:63679776 | T | C | 6 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(3): Show | 6 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.1038-73T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 12/34 | chr20 | 63679776 | ||||||
chr20:63680024 | G | A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1135+78G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 13/34 | chr20 | 63680024 | ||||||
chr20:63680451 | G | C | 1 | a0009c0010t0001g0033 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1136-213G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 13/34 | chr20 | 63680451 | ||||||
chr20:63680946 | T | C | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1191+227T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63680946 | ||||||
chr20:63681144 | A | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1191+425A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681144 | ||||||
chr20:63681178 | G | A | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1191+459G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681178 | ||||||
chr20:63681313 | C | T | 1 | a0001c0014t0002g0006 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1191+594C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681313 | ||||||
chr20:63681402 | G | A | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1191+683G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681402 | ||||||
chr20:63681485 | G | C | 1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1191+766G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681485 | ||||||
chr20:63681510 | C | T | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1191+791C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681510 | ||||||
chr20:63681818 | G | A | 2 | a0001c0001t0001g0041a0007c0008t0001g0026 | 2 | HG02630.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1191+1099G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63681818 | ||||||
chr20:63682000 | T | C | 1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1191+1281T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63682000 | ||||||
chr20:63682229 | T | TCCAGCTA others(54): Show |
4 | a0001c0014t0002g0006a0007c0008t0001g0026a0011c0020t0001g0024others(1): Show | 4 | HG01258.hp2 HG03130.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.1191+1606_1191+166 others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | 63682229 | |||||
chr20:63682367 | A | ACTCCACA others(54): Show |
1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1191+1666_1191+166 others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | 63682367 | |||||
chr20:63682367 | A | ACTCCACA others(54): Show |
2 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | HG01167.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1191+1679_1191+173 others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | 63682367 | |||||
chr20:63682525 | C | T | 9 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(6): Show | 9 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.1191+1806C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63682525 | ||||||
chr20:63682701 | A | G | 9 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(6): Show | 9 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.1191+1982A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63682701 | ||||||
chr20:63683697 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1192-1826G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63683697 | ||||||
chr20:63683712 | A | G | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1192-1811A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63683712 | ||||||
chr20:63683801 | T | G | 1 | a0001c0001t0001g0043 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1192-1722T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63683801 | ||||||
chr20:63683823 | T | C | 1 | a0012c0021t0001g0025 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1192-1700T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63683823 | ||||||
chr20:63683877 | G | GTAAGTTC others(28): Show |
54 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(51): Show | 54 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(51): Show |
intron_variant | MODIFIER | c.1192-1591_1192-155 others(39): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | 63683877 | |||||
chr20:63683912 | C | CTAAGTTC others(29): Show |
1 | a0001c0003t0001g0028 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1192-1610_1192-157 others(40): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | 63683912 | |||||
chr20:63684046 | C | CTTG | 53 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(50): Show | 53 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(50): Show |
intron_variant | MODIFIER | c.1192-1475_1192-147 others(7): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | 63684046 | |||||
chr20:63684240 | C | T | 52 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(49): Show | 52 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.1192-1283C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63684240 | ||||||
chr20:63684241 | G | T | 52 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(49): Show | 52 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.1192-1282G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63684241 | ||||||
chr20:63684256 | C | T | 2 | a0001c0001t0001g0050a0001c0003t0001g0028 | 2 | HG02622.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1192-1267C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63684256 | ||||||
chr20:63684545 | A | G | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1192-978A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63684545 | ||||||
chr20:63685094 | C | T | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1192-429C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63685094 | ||||||
chr20:63685277 | C | T | 50 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(47): Show | 50 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.1192-246C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63685277 | ||||||
chr20:63685281 | T | G | 50 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(47): Show | 50 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.1192-242T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63685281 | ||||||
chr20:63685481 | G | T | 2 | a0011c0020t0001g0024a0012c0021t0001g0025 | 2 | HG01258.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1192-42G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | chr20 | 63685481 | ||||||
chr20:63686352 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1348+480G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63686352 | ||||||
chr20:63686432 | G | A | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1348+560G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63686432 | ||||||
chr20:63686594 | C | G | 1 | a0001c0001t0001g0047 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1348+722C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63686594 | ||||||
chr20:63686673 | G | A | 1 | a0001c0014t0002g0006 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1348+801G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63686673 | ||||||
chr20:63686867 | T | C | 2 | a0001c0007t0002g0012a0001c0012t0002g0005 | 2 | HG01069.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1349-771T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63686867 | ||||||
chr20:63687060 | C | T | 1 | a0001c0001t0002g0007 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1349-578C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63687060 | ||||||
chr20:63687503 | G | C | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1349-135G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 16/34 | chr20 | 63687503 | ||||||
chr20:63687813 | C | CTT | 3 | a0001c0014t0002g0006a0011c0020t0001g0024a0012c0021t0001g0025 | 3 | HG01258.hp2 HG03130.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1481+44_1481+45ins others(2): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr20 | 63687813 | |||||
chr20:63687931 | G | A | 1 | a0012c0021t0001g0025 | 1 | homoSapiens_chm13v2.hp1 | splice_region_variant&intron_variant | LOW | c.1482-6G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 17/34 | chr20 | 63687931 | ||||||
chr20:63688111 | T | C | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.1596-28T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 18/34 | chr20 | 63688111 | ||||||
chr20:63688130 | C | T | 1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1596-9C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 18/34 | chr20 | 63688130 | ||||||
chr20:63688208 | C | G | 4 | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0007t0001g0032others(1): Show | 4 | HG01074.hp1 HG01167.hp2 HG01361.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636+29C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 19/34 | chr20 | 63688208 | ||||||
chr20:63688251 | A | C | 56 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(53): Show | 56 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.1637-50A>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 19/34 | chr20 | 63688251 | ||||||
chr20:63688821 | C | CT | 2 | a0001c0001t0001g0041a0001c0001t0002g0020 | 2 | HG02630.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1800+217dupT | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr20 | 63688821 | |||||
chr20:63688845 | T | G | 1 | a0011c0020t0001g0024 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1801-210T>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 21/34 | chr20 | 63688845 | ||||||
chr20:63688889 | G | A | 7 | a0001c0001t0002g0007a0001c0001t0002g0010a0001c0001t0002g0011others(4): Show | 7 | HG01069.hp2 HG01258.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1801-166G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 21/34 | chr20 | 63688889 | ||||||
chr20:63688957 | G | A | 1 | a0001c0003t0001g0029 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1801-98G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 21/34 | chr20 | 63688957 | ||||||
chr20:63689277 | G | C | 1 | a0001c0001t0001g0045 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1878+145G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 22/34 | chr20 | 63689277 | ||||||
chr20:63689321 | C | T | 8 | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0019others(5): Show | 8 | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.1879-181C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 22/34 | chr20 | 63689321 | ||||||
chr20:63689720 | C | T | 1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.2026-30C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 23/34 | chr20 | 63689720 | ||||||
chr20:63689904 | A | G | 1 | a0001c0014t0002g0006 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2141+39A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 24/34 | chr20 | 63689904 | ||||||
chr20:63690644 | AGGATGCC others(94): Show |
A | 1 | a0001c0001t0001g0046 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2414-159_2414-59de others(1): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr20 | 63690644 | |||||
chr20:63691006 | C | T | 2 | a0001c0001t0001g0041a0007c0008t0001g0026 | 2 | HG02630.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2556+59C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691006 | ||||||
chr20:63691177 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2556+230C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691177 | ||||||
chr20:63691207 | G | C | 1 | a0001c0003t0001g0029 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2556+260G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691207 | ||||||
chr20:63691334 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2556+387C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691334 | ||||||
chr20:63691346 | A | G | 55 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(52): Show | 55 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.2557-396A>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691346 | ||||||
chr20:63691390 | GGGAGCCA others(11): Show |
G | 1 | a0001c0001t0003g0038 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2557-351_2557-334d others(20): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691390 | ||||||
chr20:63691483 | C | T | 1 | a0001c0001t0001g0047 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2557-259C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691483 | ||||||
chr20:63691543 | C | T | 2 | a0001c0001t0001g0034a0012c0021t0001g0025 | 2 | HG01516.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2557-199C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691543 | ||||||
chr20:63691625 | G | A | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2557-117G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691625 | ||||||
chr20:63691653 | G | C | 54 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(51): Show | 54 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(51): Show |
intron_variant | MODIFIER | c.2557-89G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 27/34 | chr20 | 63691653 | ||||||
chr20:63691916 | GCTGGTCC others(9): Show |
G | 1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2652+81_2652+96del others(16): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr20 | 63691916 | |||||
chr20:63692120 | GCACACCT others(15): Show |
G | 1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2652+288_2652+309d others(24): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr20 | 63692120 | |||||
chr20:63692299 | G | GGAAGTGG others(56): Show |
1 | a0001c0002t0001g0057 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.2652+463_2653-443d others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr20 | 63692299 | |||||
chr20:63692389 | G | A | 2 | a0001c0002t0001g0055a0001c0002t0001g0056 | 2 | HG00642.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.2653-416G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | chr20 | 63692389 | ||||||
chr20:63692428 | C | T | 1 | a0001c0002t0001g0056 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2653-377C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | chr20 | 63692428 | ||||||
chr20:63692429 | G | A | 1 | a0001c0007t0002g0012 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2653-376G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | chr20 | 63692429 | ||||||
chr20:63692459 | G | GGAGCCTC others(63): Show |
1 | a0001c0001t0003g0042 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2653-345_2653-276d others(72): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr20 | 63692459 | |||||
chr20:63692613 | C | T | 2 | a0001c0001t0002g0021a0001c0001t0002g0022 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2653-192C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | chr20 | 63692613 | ||||||
chr20:63692654 | T | C | 11 | a0001c0001t0001g0041a0001c0001t0002g0020a0001c0001t0003g0038others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.2653-151T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | chr20 | 63692654 | ||||||
chr20:63692718 | C | T | 1 | a0001c0001t0002g0009 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2653-87C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 28/34 | chr20 | 63692718 | ||||||
chr20:63693025 | A | C | 2 | a0001c0001t0001g0041a0001c0001t0002g0020 | 2 | HG02630.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2851+22A>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/34 | chr20 | 63693025 | ||||||
chr20:63693051 | C | T | 1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.2851+48C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/34 | chr20 | 63693051 | ||||||
chr20:63693055 | T | C | 1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2851+52T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/34 | chr20 | 63693055 | ||||||
chr20:63693127 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2852-16G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 29/34 | chr20 | 63693127 | ||||||
chr20:63693320 | C | T | 3 | a0001c0001t0002g0021a0001c0001t0002g0022a0007c0008t0001g0026 | 3 | HG02280.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2992+37C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693320 | ||||||
chr20:63693435 | A | T | 1 | a0001c0001t0001g0030 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2992+152A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693435 | ||||||
chr20:63693439 | G | C | 1 | a0001c0002t0001g0058 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2992+156G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693439 | ||||||
chr20:63693445 | G | C | 2 | a0001c0001t0001g0047a0001c0002t0001g0058 | 2 | HG02258.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2992+162G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693445 | ||||||
chr20:63693447 | A | T | 2 | a0001c0001t0001g0047a0001c0002t0001g0058 | 2 | HG02258.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2992+164A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693447 | ||||||
chr20:63693448 | G | C | 2 | a0001c0001t0001g0047a0001c0002t0001g0058 | 2 | HG02258.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2992+165G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693448 | ||||||
chr20:63693448 | G | GCACCACC others(5300): Show |
1 | a0003c0005t0001g0060 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(5309): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693448 | |||||
chr20:63693448 | G | GCACCACC others(880): Show |
1 | a0001c0001t0001g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(889): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693448 | |||||
chr20:63693448 | G | GCACCACC others(263): Show |
1 | a0002c0004t0004g0002 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(272): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693448 | |||||
chr20:63693448 | G | GCACCACC others(230): Show |
1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2992+179_2992+180i others(239): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693448 | |||||
chr20:63693456 | T | A | 1 | a0001c0002t0001g0058 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2992+173T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693456 | ||||||
chr20:63693456 | T | TCCA | 5 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0003t0001g0028others(2): Show | 5 | HG01074.hp1 HG02622.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2992+176_2992+178d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCAC others(5): Show |
1 | a0001c0002t0001g0055 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCAC others(8): Show |
1 | a0001c0001t0003g0042 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(17): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCAC others(11): Show |
1 | a0010c0019t0002g0014 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2992+178_2992+179i others(20): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCAC others(1491): Show |
1 | a0008c0013t0002g0015 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2992+178_2992+179i others(1500): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCAC others(89): Show |
1 | a0009c0010t0001g0033 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2992+178_2992+179i others(98): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCAC others(23): Show |
1 | a0001c0001t0002g0011 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2992+178_2992+179i others(32): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCTT others(17): Show |
1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(26): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCTT others(53): Show |
1 | a0011c0020t0001g0024 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(62): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCTT others(1544): Show |
1 | a0001c0001t0003g0038 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(1553): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693456 | T | TCCACCTT others(17): Show |
1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2992+179_2992+180i others(26): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693456 | |||||
chr20:63693459 | A | ACCACCAC others(80): Show |
1 | a0001c0001t0002g0007 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2992+178_2992+179i others(89): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693459 | |||||
chr20:63693459 | A | ACCACCT | 2 | a0001c0001t0002g0010a0001c0001t0002g0013 | 2 | HG02922.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2992+178_2992+179i others(8): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693459 | |||||
chr20:63693459 | A | ACCACCTC others(1508): Show |
1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(1517): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693459 | |||||
chr20:63693459 | A | ACCACCTC others(65): Show |
1 | a0001c0001t0001g0045 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(74): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693459 | |||||
chr20:63693459 | A | ACCACCTC others(41): Show |
1 | a0001c0007t0001g0032 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2992+178_2992+179i others(50): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693459 | |||||
chr20:63693459 | ACCT | A | 2 | a0001c0001t0001g0035a0001c0001t0002g0020 | 2 | NA18906.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2992+179_2992+181d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693459 | |||||
chr20:63693462 | T | A | 12 | a0001c0001t0001g0045a0001c0001t0002g0007a0001c0001t0002g0010others(9): Show | 12 | HG00642.hp1 HG01069.hp1 HG01106.hp1 others(9): Show |
intron_variant | MODIFIER | c.2992+179T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TCCACCAC others(3233): Show |
1 | a0001c0001t0002g0021 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2992+184_2992+185i others(3242): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693462 | |||||
chr20:63693462 | T | TCCACCTC others(71): Show |
1 | a0010c0019t0002g0014 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2992+190_2992+191i others(80): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693462 | |||||
chr20:63693462 | T | TTCA | 8 | a0001c0001t0001g0034a0001c0001t0001g0046a0001c0001t0003g0048others(5): Show | 8 | HG00621.hp1 HG00642.hp2 HG01069.hp2 others(5): Show |
intron_variant | MODIFIER | c.2992+179_2992+180i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(2): Show |
4 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0052others(1): Show | 4 | HG02630.hp1 HG03225.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+179_2992+180i others(11): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(1907): Show |
1 | a0001c0014t0002g0006 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2992+179_2992+180i others(1916): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(650): Show |
1 | a0002c0004t0004g0003 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(659): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(1637): Show |
1 | a0001c0007t0002g0012 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2992+179_2992+180i others(1646): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(218): Show |
1 | a0012c0021t0001g0025 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2992+179_2992+180i others(227): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(83): Show |
1 | a0006c0009t0002g0017 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(92): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(104): Show |
1 | a0005c0018t0002g0018 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(113): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(215): Show |
1 | a0001c0001t0002g0009 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(224): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(101): Show |
1 | a0001c0001t0003g0039 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(110): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(1469): Show |
1 | a0001c0001t0003g0040 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2992+179_2992+180i others(1478): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(47): Show |
1 | a0001c0001t0001g0049 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(56): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693462 | T | TTCACCAC others(17): Show |
1 | a0001c0001t0001g0043 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2992+179_2992+180i others(26): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693462 | ||||||
chr20:63693465 | A | T | 3 | a0001c0002t0001g0056a0001c0016t0002g0023a0003c0005t0001g0051 | 3 | HG00642.hp1 HG01069.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2992+182A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693465 | ||||||
chr20:63693468 | T | A | 23 | a0001c0001t0001g0034a0001c0001t0001g0045a0001c0001t0001g0046others(20): Show | 23 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.2992+185T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693468 | ||||||
chr20:63693468 | T | TCCA | 4 | a0001c0001t0001g0030a0001c0001t0002g0011a0002c0015t0004g0004others(1): Show | 4 | HG03017.hp2 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+188_2992+190d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693468 | |||||
chr20:63693474 | T | A | 16 | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0043others(13): Show | 16 | HG00621.hp2 HG00642.hp1 HG01074.hp1 others(13): Show |
intron_variant | MODIFIER | c.2992+191T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693474 | ||||||
chr20:63693474 | T | TCCA | 3 | a0001c0001t0001g0034a0001c0001t0002g0019a0001c0017t0001g0053 | 3 | HG00621.hp1 HG01516.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.2992+194_2992+196d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693474 | |||||
chr20:63693477 | A | T | 1 | a0011c0020t0001g0024 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2992+194A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693477 | ||||||
chr20:63693480 | T | A | 15 | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0044others(12): Show | 15 | HG00621.hp2 HG00642.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.2992+197T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693480 | ||||||
chr20:63693480 | T | TCCA | 3 | a0001c0001t0002g0009a0001c0002t0001g0058a0002c0004t0004g0003 | 3 | HG01516.hp2 HG03239.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2992+206_2992+208d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693480 | |||||
chr20:63693480 | T | TCCACCAC others(1940): Show |
1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2992+205_2992+206i others(1949): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693480 | |||||
chr20:63693480 | T | TCCACCTC others(73): Show |
1 | a0003c0005t0001g0051 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2992+202_2992+203i others(82): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693480 | |||||
chr20:63693483 | A | ACCT | 3 | a0001c0001t0002g0022a0001c0001t0003g0038a0001c0003t0001g0027 | 3 | HG02451.hp1 HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2992+202_2992+203i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693483 | |||||
chr20:63693483 | A | T | 3 | a0001c0001t0001g0035a0001c0001t0001g0045a0001c0001t0003g0042 | 3 | HG01106.hp1 HG02622.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2992+200A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693483 | ||||||
chr20:63693486 | A | ACCT | 5 | a0001c0001t0002g0011a0001c0001t0002g0020a0001c0016t0002g0023others(2): Show | 5 | HG01069.hp1 HG01074.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.2992+205_2992+206i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693486 | |||||
chr20:63693486 | A | T | 4 | a0001c0001t0003g0040a0001c0002t0001g0056a0001c0017t0001g0053others(1): Show | 4 | HG00621.hp1 HG00642.hp1 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+203A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693486 | ||||||
chr20:63693489 | A | T | 5 | a0001c0001t0001g0030a0001c0001t0003g0039a0001c0003t0001g0029others(2): Show | 5 | HG02258.hp1 HG02280.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.2992+206A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693489 | ||||||
chr20:63693489 | ACCT | A | 2 | a0001c0001t0001g0041a0001c0014t0002g0006 | 2 | HG02630.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2992+209_2992+211d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693489 | |||||
chr20:63693492 | T | A | 19 | a0001c0001t0001g0030a0001c0001t0001g0043a0001c0001t0001g0049others(16): Show | 19 | HG00621.hp2 HG01074.hp1 HG01258.hp1 others(16): Show |
intron_variant | MODIFIER | c.2992+209T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693492 | ||||||
chr20:63693492 | T | TCCACCAC others(5): Show |
1 | a0001c0001t0002g0007 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2992+214_2992+215i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693492 | |||||
chr20:63693492 | T | TCCACCAC others(53): Show |
1 | a0001c0001t0003g0048 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2992+214_2992+215i others(62): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693492 | |||||
chr20:63693492 | T | TCCACCTC others(23): Show |
1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2992+223_2992+224i others(32): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693492 | |||||
chr20:63693498 | T | A | 6 | a0001c0001t0001g0030a0001c0001t0001g0049a0001c0007t0001g0032others(3): Show | 6 | HG01258.hp2 HG01361.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.2992+215T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693498 | ||||||
chr20:63693501 | A | ACCT | 4 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0003t0001g0027others(1): Show | 4 | HG02451.hp1 HG02922.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+220_2992+221i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693501 | |||||
chr20:63693501 | A | T | 2 | a0001c0001t0001g0049a0011c0020t0001g0024 | 2 | HG01258.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2992+218A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693501 | ||||||
chr20:63693503 | C | CTCCACCA others(401): Show |
1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2992+220_2992+221i others(410): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693503 | ||||||
chr20:63693504 | A | ACCT | 2 | a0001c0007t0001g0032a0006c0009t0002g0017 | 2 | HG01074.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.2992+223_2992+224i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693504 | |||||
chr20:63693504 | A | T | 9 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0046others(6): Show | 9 | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(6): Show |
intron_variant | MODIFIER | c.2992+221A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693504 | ||||||
chr20:63693507 | A | T | 6 | a0001c0001t0002g0016a0001c0001t0003g0042a0001c0001t0003g0048others(3): Show | 6 | HG01069.hp2 HG01361.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992+224A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693507 | ||||||
chr20:63693510 | T | A | 34 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0043others(31): Show | 34 | HG00621.hp1 HG00642.hp2 HG01069.hp2 others(31): Show |
intron_variant | MODIFIER | c.2992+227T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693510 | ||||||
chr20:63693510 | T | TCCACCA | 3 | a0001c0001t0001g0054a0001c0016t0002g0023a0002c0004t0004g0002 | 3 | HG00621.hp2 HG01069.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.2992+229_2992+230i others(8): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693510 | |||||
chr20:63693510 | T | TCCACCAC others(3910): Show |
1 | a0001c0001t0001g0052 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2992+229_2992+230i others(3919): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693510 | |||||
chr20:63693510 | T | TCCACCAC others(1016): Show |
1 | a0001c0001t0002g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2992+229_2992+230i others(1025): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693510 | |||||
chr20:63693510 | T | TCCACCAC others(137): Show |
1 | a0001c0002t0001g0056 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2992+229_2992+230i others(146): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693510 | |||||
chr20:63693510 | T | TCCACCTC others(236): Show |
1 | a0001c0003t0001g0028 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2992+229_2992+230i others(245): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693510 | |||||
chr20:63693513 | T | A | 21 | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0044others(18): Show | 21 | HG01167.hp1 HG01167.hp2 HG01258.hp2 others(18): Show |
intron_variant | MODIFIER | c.2992+230T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693513 | ||||||
chr20:63693513 | T | TCCACCAC others(209): Show |
1 | a0001c0001t0001g0046 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2992+238_2992+239i others(218): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693513 | |||||
chr20:63693514 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2992+231C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693514 | ||||||
chr20:63693516 | A | ACCT | 2 | a0001c0001t0001g0035a0001c0001t0002g0020 | 2 | NA18906.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2992+235_2992+236i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693516 | |||||
chr20:63693516 | A | T | 4 | a0001c0001t0001g0031a0001c0002t0001g0055a0009c0010t0001g0033others(1): Show | 4 | HG01167.hp1 HG01167.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+233A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693516 | ||||||
chr20:63693517 | C | CCTCCACC others(125): Show |
1 | a0001c0017t0001g0053 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2992+235_2992+236i others(134): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693517 | |||||
chr20:63693519 | A | ACCACCT | 2 | a0001c0001t0003g0039a0008c0013t0002g0015 | 2 | HG02280.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2992+241_2992+242i others(8): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693519 | |||||
chr20:63693519 | A | ACCTCCAC others(5): Show |
1 | a0001c0001t0001g0044 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2992+238_2992+239i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693519 | |||||
chr20:63693519 | A | T | 11 | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0054others(8): Show | 11 | HG00621.hp2 HG01069.hp1 HG01074.hp1 others(8): Show |
intron_variant | MODIFIER | c.2992+236A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693519 | ||||||
chr20:63693522 | A | ACCT | 2 | a0001c0001t0003g0040a0007c0008t0001g0026 | 2 | HG03471.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2992+241_2992+242i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693522 | |||||
chr20:63693522 | A | ACCTCCAC others(203): Show |
1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2992+241_2992+242i others(212): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693522 | |||||
chr20:63693522 | A | T | 9 | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0049others(6): Show | 9 | HG01106.hp1 HG01106.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.2992+239A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693522 | ||||||
chr20:63693525 | A | ACCACCAC others(3128): Show |
1 | a0001c0001t0001g0043 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2992+244_2992+245i others(3137): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693525 | |||||
chr20:63693525 | A | T | 1 | a0001c0001t0003g0048 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2992+242A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693525 | ||||||
chr20:63693528 | T | A | 7 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0003g0048others(4): Show | 7 | HG00621.hp1 HG00642.hp1 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.2992+245T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693528 | ||||||
chr20:63693528 | T | TCCACCAC others(1689): Show |
1 | a0001c0003t0001g0029 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2992+253_2992+254i others(1698): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693528 | |||||
chr20:63693528 | T | TCCACCAC others(3086): Show |
1 | a0001c0001t0001g0030 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2992+253_2992+254i others(3095): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693528 | |||||
chr20:63693528 | T | TCCACCTC others(89): Show |
1 | a0004c0006t0001g0037 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2992+250_2992+251i others(98): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693528 | |||||
chr20:63693528 | T | TCCACCTC others(35): Show |
1 | a0004c0006t0001g0036 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2992+250_2992+251i others(44): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693528 | |||||
chr20:63693531 | A | ACCACCTC others(41): Show |
1 | a0001c0001t0002g0016 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2992+253_2992+254i others(50): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693531 | |||||
chr20:63693531 | A | ACCT | 4 | a0002c0004t0004g0002a0003c0005t0001g0060a0010c0019t0002g0014others(1): Show | 4 | HG00621.hp2 HG01258.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+250_2992+251i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693531 | |||||
chr20:63693531 | A | ACCTCCAC others(279): Show |
1 | a0001c0001t0001g0034 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2992+250_2992+251i others(288): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693531 | |||||
chr20:63693531 | A | T | 1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2992+248A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693531 | ||||||
chr20:63693534 | A | ACCTCTAC others(203): Show |
1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.2992+253_2992+254i others(212): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693534 | |||||
chr20:63693534 | A | T | 10 | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0002g0021others(7): Show | 10 | HG01258.hp1 HG01516.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992+251A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693534 | ||||||
chr20:63693537 | A | ACCT | 2 | a0001c0001t0001g0031a0001c0001t0001g0059 | 2 | HG01167.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2992+256_2992+257i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693537 | |||||
chr20:63693537 | A | T | 2 | a0001c0002t0001g0056a0011c0020t0001g0024 | 2 | HG00642.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.2992+254A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693537 | ||||||
chr20:63693540 | A | ACCACCAC others(485): Show |
1 | a0001c0001t0002g0020 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2992+277_2992+278i others(494): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693540 | |||||
chr20:63693540 | A | ACCT | 4 | a0001c0001t0002g0013a0001c0001t0003g0040a0001c0002t0001g0057others(1): Show | 4 | HG01361.hp2 HG02922.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992+259_2992+260i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693540 | |||||
chr20:63693540 | A | ACCTCCAC others(5): Show |
1 | a0001c0001t0002g0011 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2992+259_2992+260i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693540 | |||||
chr20:63693540 | A | ACCTCCAC others(59): Show |
1 | a0001c0002t0001g0058 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2992+259_2992+260i others(68): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693540 | |||||
chr20:63693540 | A | T | 16 | a0001c0001t0001g0030a0001c0001t0001g0041a0001c0001t0001g0043others(13): Show | 16 | HG00621.hp2 HG01069.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.2992+257A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693540 | ||||||
chr20:63693543 | A | ACCCCACC others(122): Show |
1 | a0001c0001t0001g0054 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2992+262_2992+263i others(131): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693543 | |||||
chr20:63693543 | A | T | 7 | a0001c0001t0001g0035a0001c0001t0001g0047a0001c0001t0002g0007others(4): Show | 7 | HG01069.hp1 HG01167.hp2 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.2992+260A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693543 | ||||||
chr20:63693546 | A | ACCTCCAC others(137): Show |
1 | a0005c0018t0002g0018 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2992+265_2992+266i others(146): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693546 | |||||
chr20:63693546 | A | C | 1 | a0001c0001t0001g0034 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2992+263A>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693546 | ||||||
chr20:63693546 | A | T | 8 | a0001c0001t0001g0041a0001c0001t0001g0059a0001c0002t0001g0056others(5): Show | 8 | HG00621.hp1 HG00642.hp1 HG01069.hp2 others(5): Show |
intron_variant | MODIFIER | c.2992+263A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693546 | ||||||
chr20:63693547 | C | A | 1 | a0009c0010t0001g0033 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2992+264C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693547 | ||||||
chr20:63693549 | A | ACCACCTC others(4584): Show |
1 | a0002c0004t0004g0002 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.2992+283_2992+284i others(4593): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693549 | |||||
chr20:63693549 | A | ACCT | 2 | a0001c0001t0001g0046a0001c0001t0002g0009 | 2 | HG00642.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2992+268_2992+269i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693549 | |||||
chr20:63693549 | A | T | 7 | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0002g0016others(4): Show | 7 | HG01069.hp1 HG02258.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.2992+266A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693549 | ||||||
chr20:63693552 | A | T | 2 | a0001c0001t0002g0010a0012c0021t0001g0025 | 2 | HG02922.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2992+269A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693552 | ||||||
chr20:63693555 | T | A | 6 | a0001c0001t0001g0054a0001c0002t0001g0056a0001c0003t0001g0028others(3): Show | 6 | HG00642.hp1 HG01074.hp1 HG01074.hp2 others(3): Show |
intron_variant | MODIFIER | c.2992+272T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693555 | ||||||
chr20:63693555 | T | TCCA | 2 | a0001c0001t0001g0045a0001c0001t0001g0046 | 2 | HG00642.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.2992+275_2992+277d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693555 | |||||
chr20:63693555 | T | TCCACCAC others(254): Show |
1 | a0001c0001t0002g0013 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2992+277_2992+278i others(263): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693555 | |||||
chr20:63693558 | A | T | 1 | a0001c0011t0002g0008 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2992+275A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693558 | ||||||
chr20:63693561 | T | A | 12 | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0041others(9): Show | 12 | HG00642.hp2 HG01069.hp1 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.2992+278T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693561 | ||||||
chr20:63693561 | T | TCCACCTC others(1714): Show |
1 | a0008c0013t0002g0015 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2992+283_2992+284i others(1723): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693561 | |||||
chr20:63693564 | A | ACCT | 4 | a0001c0001t0003g0040a0001c0003t0001g0027a0001c0003t0001g0028others(1): Show | 4 | HG00621.hp1 HG02451.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992+283_2992+284i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693564 | |||||
chr20:63693564 | A | ACCTCCAC others(4466): Show |
1 | a0001c0002t0001g0055 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2992+283_2992+284i others(4475): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693564 | |||||
chr20:63693564 | A | T | 2 | a0001c0001t0001g0044a0010c0019t0002g0014 | 2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2992+281A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693564 | ||||||
chr20:63693567 | A | T | 4 | a0001c0001t0001g0035a0001c0001t0001g0059a0001c0001t0003g0038others(1): Show | 4 | HG01069.hp1 HG02559.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+284A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693567 | ||||||
chr20:63693570 | T | A | 13 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0035others(10): Show | 13 | HG01069.hp1 HG01069.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2992+287T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693570 | ||||||
chr20:63693570 | T | TCCA | 3 | a0001c0001t0001g0047a0002c0015t0004g0004a0003c0005t0001g0060 | 3 | HG02258.hp2 HG02886.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.2992+290_2992+292d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693570 | |||||
chr20:63693570 | T | TCCACCAC others(121): Show |
1 | a0001c0001t0001g0049 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2992+292_2992+293i others(130): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693570 | |||||
chr20:63693570 | T | TCCACCAC others(836): Show |
1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2992+292_2992+293i others(845): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693570 | |||||
chr20:63693570 | T | TCCACCAC others(325): Show |
1 | a0001c0001t0002g0016 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2992+292_2992+293i others(334): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693570 | |||||
chr20:63693570 | T | TCCACCTC others(5233): Show |
1 | a0003c0005t0001g0051 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2992+298_2992+299i others(5242): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693570 | |||||
chr20:63693573 | A | T | 1 | a0001c0011t0002g0008 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2992+290A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693573 | ||||||
chr20:63693576 | T | A | 14 | a0001c0001t0001g0035a0001c0001t0001g0050a0001c0001t0001g0059others(11): Show | 14 | HG00642.hp1 HG01069.hp1 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.2992+293T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693576 | ||||||
chr20:63693578 | C | G | 1 | a0004c0006t0001g0036 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2992+295C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693578 | ||||||
chr20:63693579 | A | ACCACCAC others(794): Show |
1 | a0001c0001t0002g0013 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2992+313_2992+314i others(803): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693579 | |||||
chr20:63693579 | A | ACCACCT | 2 | a0001c0007t0002g0012a0001c0014t0002g0006 | 2 | HG01258.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2992+301_2992+302i others(8): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693579 | |||||
chr20:63693579 | A | ACCT | 2 | a0001c0001t0002g0021a0001c0002t0001g0056 | 2 | HG00642.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.2992+298_2992+299i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693579 | |||||
chr20:63693579 | A | ACCTCCAC others(3834): Show |
1 | a0001c0012t0002g0005 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.2992+298_2992+299i others(3843): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693579 | |||||
chr20:63693579 | A | ACCTCCAC others(5512): Show |
1 | a0001c0007t0001g0032 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2992+298_2992+299i others(5521): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693579 | |||||
chr20:63693579 | A | T | 3 | a0001c0016t0002g0023a0004c0006t0001g0036a0012c0021t0001g0025 | 3 | HG01069.hp1 HG02559.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2992+296A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693579 | ||||||
chr20:63693582 | A | ACCTCCAC others(344): Show |
1 | a0001c0001t0003g0042 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2992+301_2992+302i others(353): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693582 | |||||
chr20:63693582 | A | ACCTCCAC others(2305): Show |
1 | a0001c0002t0001g0058 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2992+301_2992+302i others(2314): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693582 | |||||
chr20:63693582 | A | T | 11 | a0001c0001t0001g0034a0001c0001t0001g0044a0001c0001t0002g0010others(8): Show | 11 | HG01106.hp2 HG01167.hp2 HG01516.hp1 others(8): Show |
intron_variant | MODIFIER | c.2992+299A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693582 | ||||||
chr20:63693585 | A | ACCACCTC others(4204): Show |
1 | a0001c0001t0001g0049 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2992+313_2992+314i others(4213): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693585 | |||||
chr20:63693585 | A | ACCTCCAC others(203): Show |
1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2992+304_2992+305i others(212): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693585 | |||||
chr20:63693585 | A | T | 6 | a0001c0001t0001g0047a0001c0001t0002g0007a0001c0001t0002g0009others(3): Show | 6 | HG00621.hp1 HG01074.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2992+302A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693585 | ||||||
chr20:63693588 | A | C | 2 | a0001c0001t0001g0054a0001c0003t0001g0028 | 2 | HG01074.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2992+305A>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693588 | ||||||
chr20:63693588 | A | T | 2 | a0001c0001t0001g0041a0008c0013t0002g0015 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2992+305A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693588 | ||||||
chr20:63693591 | T | A | 12 | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0046others(9): Show | 12 | HG00642.hp2 HG01069.hp2 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.2992+308T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693591 | ||||||
chr20:63693591 | T | TCCACCA | 2 | a0001c0002t0001g0057a0001c0003t0001g0027 | 2 | HG01361.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.2992+313_2992+314i others(8): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693591 | |||||
chr20:63693591 | T | TCCACCAC others(3143): Show |
1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2992+313_2992+314i others(3152): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693591 | |||||
chr20:63693595 | C | A | 1 | a0001c0007t0002g0012 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2992+312C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693595 | ||||||
chr20:63693597 | T | A | 10 | a0001c0001t0001g0034a0001c0001t0001g0044a0001c0001t0002g0007others(7): Show | 10 | HG01074.hp2 HG01167.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992+314T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693597 | ||||||
chr20:63693597 | T | TCCA | 2 | a0001c0001t0001g0031a0002c0015t0004g0004 | 2 | HG01167.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.2992+326_2992+328d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693597 | |||||
chr20:63693600 | A | ACCACCAC others(3050): Show |
1 | a0002c0004t0004g0003 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2992+334_2992+335i others(3059): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693600 | |||||
chr20:63693600 | A | ACCACCTC others(170): Show |
1 | a0010c0019t0002g0014 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2992+322_2992+323i others(179): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693600 | |||||
chr20:63693600 | A | T | 3 | a0001c0001t0002g0007a0006c0009t0002g0017a0009c0010t0001g0033 | 3 | HG01074.hp2 HG01167.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.2992+317A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693600 | ||||||
chr20:63693603 | A | ACCTCCAC others(155): Show |
1 | a0001c0001t0002g0011 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2992+322_2992+323i others(164): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693603 | |||||
chr20:63693603 | A | T | 14 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0052others(11): Show | 14 | HG00621.hp1 HG00642.hp2 HG01361.hp1 others(11): Show |
intron_variant | MODIFIER | c.2992+320A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693603 | ||||||
chr20:63693606 | A | ACCTCCAC others(92): Show |
1 | a0004c0006t0001g0037 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2992+325_2992+326i others(101): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693606 | |||||
chr20:63693606 | A | T | 10 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0002g0010others(7): Show | 10 | HG01258.hp1 HG01258.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.2992+323A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693606 | ||||||
chr20:63693609 | A | ACCACCAC others(74): Show |
1 | a0001c0001t0001g0045 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2992+328_2992+329i others(83): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693609 | |||||
chr20:63693612 | T | A | 15 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(12): Show | 15 | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.2992+329T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693612 | ||||||
chr20:63693612 | T | TCCACCAC others(3692): Show |
1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.2992+334_2992+335i others(3701): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693612 | |||||
chr20:63693612 | T | TCCACCTC others(4913): Show |
1 | a0012c0021t0001g0025 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2992+343_2992+344i others(4922): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693612 | |||||
chr20:63693618 | T | A | 11 | a0001c0001t0001g0034a0001c0001t0001g0046a0001c0003t0001g0029others(8): Show | 11 | HG00642.hp2 HG01069.hp1 HG01069.hp2 others(8): Show |
intron_variant | MODIFIER | c.2992+335T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693618 | ||||||
chr20:63693618 | T | TCCA | 2 | a0001c0001t0001g0031a0001c0001t0002g0009 | 2 | HG01167.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2992+344_2992+346d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693618 | |||||
chr20:63693618 | T | TCCACCAC others(4198): Show |
1 | a0001c0002t0001g0056 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2992+346_2992+347i others(4207): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693618 | |||||
chr20:63693618 | T | TCCACCAC others(83): Show |
1 | a0004c0006t0001g0036 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2992+346_2992+347i others(92): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693618 | |||||
chr20:63693619 | C | T | 1 | a0001c0001t0001g0047 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2992+336C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693619 | ||||||
chr20:63693621 | A | ACCACCTC others(1338): Show |
1 | a0001c0001t0001g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2992+343_2992+344i others(1347): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693621 | |||||
chr20:63693621 | A | ACCT | 3 | a0001c0001t0003g0048a0001c0002t0001g0057a0011c0020t0001g0024 | 3 | HG01258.hp2 HG01361.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2992+340_2992+341i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693621 | |||||
chr20:63693621 | A | T | 2 | a0001c0001t0001g0046a0001c0016t0002g0023 | 2 | HG00642.hp2 HG01069.hp1 |
intron_variant | MODIFIER | c.2992+338A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693621 | ||||||
chr20:63693624 | A | ACCT | 5 | a0001c0001t0001g0050a0002c0004t0004g0002a0002c0015t0004g0004others(2): Show | 5 | HG00621.hp2 HG01106.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2992+343_2992+344i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693624 | |||||
chr20:63693624 | A | T | 10 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0002t0001g0058others(7): Show | 10 | HG01074.hp2 HG01167.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992+341A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693624 | ||||||
chr20:63693627 | A | ACCACCTC others(4643): Show |
1 | a0001c0017t0001g0053 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2992+346_2992+347i others(4652): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693627 | |||||
chr20:63693628 | C | CCACCCCA others(234): Show |
1 | a0001c0001t0001g0044 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2992+346_2992+347i others(243): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693628 | |||||
chr20:63693630 | T | A | 14 | a0001c0001t0001g0030a0001c0001t0001g0041a0001c0001t0001g0043others(11): Show | 14 | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.2992+347T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693630 | ||||||
chr20:63693630 | T | C | 1 | a0001c0001t0001g0044 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2992+347T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693630 | ||||||
chr20:63693633 | A | ACCT | 3 | a0001c0001t0001g0030a0001c0001t0002g0010a0001c0002t0001g0055 | 3 | HG02922.hp2 HG03453.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.2992+352_2992+353i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693633 | |||||
chr20:63693633 | A | ACCTCCAC others(290): Show |
1 | a0001c0001t0001g0047 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2992+352_2992+353i others(299): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693633 | |||||
chr20:63693633 | A | T | 2 | a0001c0001t0002g0007a0001c0016t0002g0023 | 2 | HG01069.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2992+350A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693633 | ||||||
chr20:63693636 | A | T | 12 | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0059others(9): Show | 12 | HG01074.hp1 HG01106.hp2 HG01258.hp2 others(9): Show |
intron_variant | MODIFIER | c.2992+353A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693636 | ||||||
chr20:63693639 | A | ACCT | 2 | a0001c0001t0001g0045a0010c0019t0002g0014 | 2 | HG01106.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.2992+358_2992+359i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693639 | |||||
chr20:63693639 | A | T | 11 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0050others(8): Show | 11 | HG02258.hp1 HG02622.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.2992+356A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693639 | ||||||
chr20:63693642 | A | T | 2 | a0001c0001t0002g0022a0001c0011t0002g0008 | 2 | HG03225.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2992+359A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693642 | ||||||
chr20:63693645 | T | A | 9 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0045others(6): Show | 9 | HG01106.hp1 HG01516.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.2992+362T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693645 | ||||||
chr20:63693645 | T | TCCA | 2 | a0001c0001t0001g0043a0001c0001t0002g0019 | 2 | HG03017.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2992+365_2992+367d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693645 | |||||
chr20:63693645 | T | TCCACCTC others(5129): Show |
1 | a0002c0004t0004g0002 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.2992+376_2992+377i others(5138): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693645 | |||||
chr20:63693645 | T | TCCCCTCC others(5788): Show |
1 | a0001c0001t0001g0044 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2992+364_2992+365i others(5797): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693645 | |||||
chr20:63693648 | A | ACCACCAC others(89): Show |
1 | a0006c0009t0002g0017 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2992+367_2992+368i others(98): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693648 | |||||
chr20:63693649 | C | CCCCCCAC others(64): Show |
1 | a0001c0001t0001g0054 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2992+367_2992+368i others(73): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693649 | |||||
chr20:63693651 | T | A | 15 | a0001c0001t0001g0034a0001c0001t0001g0044a0001c0001t0002g0007others(12): Show | 15 | HG00642.hp1 HG01074.hp2 HG01167.hp2 others(12): Show |
intron_variant | MODIFIER | c.2992+368T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693651 | ||||||
chr20:63693651 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2992+368T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693651 | ||||||
chr20:63693651 | T | TCCACCTC others(65): Show |
1 | a0001c0001t0003g0048 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2992+373_2992+374i others(74): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693651 | |||||
chr20:63693651 | T | TCCACCTC others(95): Show |
1 | a0001c0001t0002g0009 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2992+373_2992+374i others(104): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693651 | |||||
chr20:63693654 | A | ACCACCAC others(149): Show |
1 | a0011c0020t0001g0024 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2992+379_2992+380i others(158): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCACCAC others(5): Show |
1 | a0001c0007t0002g0012 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2992+379_2992+380i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCACCTC others(113): Show |
1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2992+376_2992+377i others(122): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCACCTC others(20): Show |
1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2992+376_2992+377i others(29): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCT | 2 | a0001c0001t0002g0020a0001c0002t0001g0057 | 2 | HG01361.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2992+373_2992+374i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCTCCAC others(296): Show |
1 | a0001c0001t0002g0007 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2992+373_2992+374i others(305): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCTCCAC others(899): Show |
1 | a0001c0001t0001g0052 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2992+373_2992+374i others(908): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | ACCTCCAC others(6737): Show |
1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2992+373_2992+374i others(6746): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693654 | |||||
chr20:63693654 | A | T | 3 | a0003c0005t0001g0051a0003c0005t0001g0060a0004c0006t0001g0036 | 3 | HG02559.hp2 HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2992+371A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693654 | ||||||
chr20:63693657 | A | T | 9 | a0001c0001t0002g0013a0001c0001t0003g0039a0001c0001t0003g0040others(6): Show | 9 | HG01069.hp1 HG01069.hp2 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.2992+374A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693657 | ||||||
chr20:63693660 | A | T | 2 | a0001c0001t0002g0011a0004c0006t0001g0036 | 2 | HG02559.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2992+377A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693660 | ||||||
chr20:63693661 | C | CCACCACC others(83): Show |
1 | a0001c0001t0001g0046 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2992+379_2992+380i others(92): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693661 | |||||
chr20:63693663 | T | A | 13 | a0001c0001t0001g0046a0001c0001t0001g0052a0001c0001t0001g0054others(10): Show | 13 | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(10): Show |
intron_variant | MODIFIER | c.2992+380T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693663 | ||||||
chr20:63693666 | A | ACCT | 3 | a0001c0001t0001g0045a0001c0001t0002g0022a0001c0001t0003g0048 | 3 | HG01106.hp1 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2992+385_2992+386i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693666 | |||||
chr20:63693666 | A | T | 1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2992+383A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693666 | ||||||
chr20:63693669 | A | ACCACCAC others(56): Show |
1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2992+394_2992+395i others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693669 | |||||
chr20:63693669 | A | T | 10 | a0001c0001t0001g0049a0001c0001t0001g0054a0001c0001t0002g0011others(7): Show | 10 | HG01074.hp1 HG01258.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992+386A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693669 | ||||||
chr20:63693672 | A | ACCT | 2 | a0001c0001t0001g0030a0001c0002t0001g0055 | 2 | HG03453.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.2992+391_2992+392i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693672 | |||||
chr20:63693672 | A | T | 6 | a0001c0001t0001g0035a0001c0001t0001g0045a0001c0001t0001g0059others(3): Show | 6 | HG01106.hp1 HG01106.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992+389A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693672 | ||||||
chr20:63693675 | A | ACCACCTC others(4781): Show |
1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2992+397_2992+398i others(4790): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693675 | |||||
chr20:63693675 | A | ACCT | 3 | a0001c0001t0001g0044a0002c0004t0004g0002a0009c0010t0001g0033 | 3 | HG00621.hp2 HG01167.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2992+394_2992+395i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693675 | |||||
chr20:63693675 | A | ACCTCCAC others(5378): Show |
1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2992+394_2992+395i others(5387): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693675 | |||||
chr20:63693675 | A | T | 14 | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0002g0009others(11): Show | 14 | HG00642.hp1 HG01516.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.2992+392A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693675 | ||||||
chr20:63693678 | A | T | 6 | a0001c0001t0001g0049a0001c0001t0002g0007a0001c0001t0002g0021others(3): Show | 6 | HG01258.hp2 HG02280.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.2992+395A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693678 | ||||||
chr20:63693681 | A | T | 10 | a0001c0001t0001g0030a0001c0001t0001g0046a0001c0001t0002g0010others(7): Show | 10 | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992+398A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693681 | ||||||
chr20:63693684 | A | T | 17 | a0001c0001t0001g0035a0001c0001t0001g0047a0001c0001t0001g0059others(14): Show | 17 | HG01069.hp2 HG01074.hp2 HG01258.hp1 others(14): Show |
intron_variant | MODIFIER | c.2992+401A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693684 | ||||||
chr20:63693687 | A | T | 9 | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0045others(6): Show | 9 | HG00621.hp2 HG01106.hp1 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.2992+404A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693687 | ||||||
chr20:63693688 | C | CCACCACC others(104): Show |
1 | a0001c0001t0003g0042 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2992+415_2992+416i others(113): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693688 | |||||
chr20:63693690 | A | T | 14 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0047others(11): Show | 14 | HG01074.hp2 HG01361.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.2992+407A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693690 | ||||||
chr20:63693693 | A | ACCTCCAC others(76): Show |
1 | a0001c0003t0001g0028 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2992+412_2992+413i others(85): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693693 | |||||
chr20:63693693 | A | T | 11 | a0001c0001t0002g0007a0001c0001t0002g0010a0001c0001t0002g0013others(8): Show | 11 | HG00642.hp1 HG01069.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.2992+410A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693693 | ||||||
chr20:63693696 | A | T | 11 | a0001c0001t0001g0045a0001c0001t0002g0011a0001c0001t0002g0019others(8): Show | 11 | HG01106.hp1 HG01167.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.2992+413A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693696 | ||||||
chr20:63693699 | A | ACCTCCAC others(2270): Show |
1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2992+418_2992+419i others(2279): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693699 | |||||
chr20:63693699 | A | T | 11 | a0001c0001t0001g0034a0001c0001t0001g0047a0001c0001t0001g0049others(8): Show | 11 | HG00621.hp2 HG01069.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2992+416A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693699 | ||||||
chr20:63693702 | A | T | 1 | a0001c0001t0001g0041 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2992+419A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693702 | ||||||
chr20:63693705 | T | A | 8 | a0001c0001t0001g0041a0001c0001t0001g0045a0001c0001t0002g0020others(5): Show | 8 | HG01106.hp1 HG01258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.2992+422T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693705 | ||||||
chr20:63693706 | C | T | 1 | a0004c0006t0001g0037 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2992+423C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693706 | ||||||
chr20:63693708 | A | ACCT | 2 | a0001c0002t0001g0057a0001c0007t0001g0032 | 2 | HG01361.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.2992+427_2992+428i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693708 | |||||
chr20:63693708 | A | ACCTCCAC others(791): Show |
1 | a0001c0001t0002g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2992+427_2992+428i others(800): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693708 | |||||
chr20:63693708 | A | ACCTCCAC others(6191): Show |
1 | a0006c0009t0002g0017 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2992+427_2992+428i others(6200): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693708 | |||||
chr20:63693708 | A | ACCTCCAC others(2183): Show |
1 | a0001c0003t0001g0029 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2992+427_2992+428i others(2192): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693708 | |||||
chr20:63693708 | A | ACCTCCAC others(5682): Show |
1 | a0001c0001t0001g0043 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2992+427_2992+428i others(5691): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693708 | |||||
chr20:63693708 | A | T | 3 | a0001c0002t0001g0058a0003c0005t0001g0051a0003c0005t0001g0060 | 3 | HG02886.hp1 HG03239.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2992+425A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693708 | ||||||
chr20:63693711 | A | ACCT | 2 | a0001c0001t0001g0047a0001c0001t0002g0010 | 2 | HG02258.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2992+430_2992+431i others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693711 | |||||
chr20:63693711 | A | T | 7 | a0001c0001t0001g0030a0001c0001t0001g0045a0001c0001t0001g0046others(4): Show | 7 | HG00642.hp2 HG01106.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.2992+428A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693711 | ||||||
chr20:63693714 | A | ACCTCCAC others(425): Show |
1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2992+433_2992+434i others(434): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693714 | |||||
chr20:63693714 | A | T | 4 | a0001c0001t0003g0039a0001c0001t0003g0040a0007c0008t0001g0026others(1): Show | 4 | HG02280.hp2 HG02630.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992+431A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693714 | ||||||
chr20:63693717 | A | T | 1 | a0001c0001t0002g0007 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2992+434A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693717 | ||||||
chr20:63693718 | CCTG | C | 2 | a0001c0001t0001g0046a0001c0014t0002g0006 | 2 | HG00642.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2992+437_2992+439d others(5): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693718 | |||||
chr20:63693720 | T | A | 5 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0016t0002g0023others(2): Show | 5 | HG01069.hp1 HG02451.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.2992+437T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693720 | ||||||
chr20:63693721 | G | C | 54 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(51): Show | 54 | HG00621.hp1 HG00642.hp1 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.2992+438G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693721 | ||||||
chr20:63693723 | A | ACCACCTC others(5): Show |
1 | a0004c0006t0001g0037 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2992+445_2992+446i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693723 | |||||
chr20:63693723 | A | ACCCCACC others(9303): Show |
1 | a0001c0001t0001g0054 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2992+442_2992+443i others(9312): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693723 | |||||
chr20:63693723 | A | ACCTCCAC others(749): Show |
1 | a0001c0001t0002g0022 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2992+442_2992+443i others(758): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693723 | |||||
chr20:63693723 | A | T | 9 | a0001c0001t0001g0043a0001c0001t0002g0019a0001c0001t0003g0038others(6): Show | 9 | HG01069.hp1 HG01074.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.2992+440A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693723 | ||||||
chr20:63693726 | A | ACCTCCAC others(5203): Show |
1 | a0001c0001t0003g0042 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2992+445_2992+446i others(5212): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693726 | |||||
chr20:63693726 | A | T | 4 | a0001c0001t0001g0030a0001c0001t0002g0011a0001c0001t0003g0048others(1): Show | 4 | HG02886.hp2 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+443A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693726 | ||||||
chr20:63693729 | A | ACCACCAC others(440): Show |
1 | a0001c0002t0001g0056 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2992+448_2992+449i others(449): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCAC others(5598): Show |
1 | a0001c0001t0002g0009 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(5607): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCAC others(6553): Show |
1 | a0001c0001t0001g0047 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(6562): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCAC others(7382): Show |
1 | a0010c0019t0002g0014 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(7391): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCAC others(3700): Show |
1 | a0001c0001t0001g0031 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2992+448_2992+449i others(3709): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(551): Show |
1 | a0001c0007t0002g0012 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2992+448_2992+449i others(560): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(3391): Show |
1 | a0001c0001t0002g0013 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2992+448_2992+449i others(3400): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(3179): Show |
1 | a0005c0018t0002g0018 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(3188): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(494): Show |
1 | a0001c0012t0002g0005 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(503): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(131): Show |
1 | a0001c0001t0002g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(140): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(7604): Show |
1 | a0004c0006t0001g0036 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(7613): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | ACCACCTC others(1319): Show |
1 | a0001c0001t0001g0049 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2992+448_2992+449i others(1328): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693729 | |||||
chr20:63693729 | A | T | 11 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0002g0007others(8): Show | 11 | HG01074.hp1 HG01074.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.2992+446A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693729 | ||||||
chr20:63693732 | T | A | 22 | a0001c0001t0001g0031a0001c0001t0001g0043a0001c0001t0001g0047others(19): Show | 22 | HG00642.hp1 HG01069.hp2 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.2992+449T>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693732 | ||||||
chr20:63693732 | T | TCCACCAC others(731): Show |
1 | a0001c0007t0001g0032 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(740): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(4968): Show |
1 | a0001c0001t0002g0016 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(4977): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(11626): Show |
1 | a0011c0020t0001g0024 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(11635): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(203): Show |
1 | a0001c0001t0001g0050 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(212): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(1427): Show |
1 | a0001c0001t0003g0040 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(1436): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(1217): Show |
1 | a0008c0013t0002g0015 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(1226): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(1103): Show |
1 | a0012c0021t0001g0025 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(1112): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(170): Show |
1 | a0001c0001t0001g0030 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(179): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(161): Show |
1 | a0001c0002t0001g0055 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(170): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(168): Show |
1 | a0001c0001t0001g0034 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(177): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(128): Show |
1 | a0001c0001t0001g0052 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(137): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(209): Show |
1 | a0001c0001t0001g0044 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(218): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(311): Show |
1 | a0001c0001t0002g0021 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(320): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCAC others(1517): Show |
1 | a0001c0001t0003g0039 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2992+454_2992+455i others(1526): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCCA others(7525): Show |
1 | a0001c0001t0001g0045 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(7534): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(2): Show |
2 | a0001c0001t0002g0007a0001c0007t0002g0012 | 2 | HG01258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2992+455_2992+463d others(11): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(4073): Show |
1 | a0001c0001t0002g0020 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2992+472_2992+473i others(4082): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(4379): Show |
1 | a0001c0011t0002g0008 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2992+472_2992+473i others(4388): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(8463): Show |
1 | a0001c0001t0001g0046 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2992+472_2992+473i others(8472): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(5200): Show |
1 | a0001c0003t0001g0028 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2992+466_2992+467i others(5209): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(5405): Show |
1 | a0001c0001t0002g0011 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2992+466_2992+467i others(5414): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(7807): Show |
1 | a0004c0006t0001g0037 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2992+463_2992+464i others(7816): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(5147): Show |
1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.2992+463_2992+464i others(5156): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTC others(2357): Show |
1 | a0001c0017t0001g0053 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2992+463_2992+464i others(2366): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCACCTT others(761): Show |
1 | a0001c0001t0001g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2992+455_2992+456i others(770): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693732 | T | TCCTCCAC others(5): Show |
1 | a0001c0002t0001g0057 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.2992+451_2992+452i others(14): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693732 | |||||
chr20:63693738 | T | ACCACCAC others(6335): Show |
1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2992+454_2992+455i others(6344): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693738 | ||||||
chr20:63693744 | A | T | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2992+461A>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693744 | ||||||
chr20:63693747 | A | ACCACCTC others(6749): Show |
1 | a0001c0003t0001g0027 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2992+469_2992+470i others(6758): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693747 | |||||
chr20:63693747 | A | ACCTCCAC others(7176): Show |
1 | a0001c0001t0001g0034 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2992+466_2992+467i others(7185): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693747 | |||||
chr20:63693747 | A | ACCTCCAC others(965): Show |
1 | a0001c0014t0002g0006 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2992+466_2992+467i others(974): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693747 | |||||
chr20:63693748 | C | CCACCTCC others(9476): Show |
1 | a0009c0010t0001g0033 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2992+469_2992+470i others(9485): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 63693748 | |||||
chr20:63693760 | C | A | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2992+477C>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693760 | ||||||
chr20:63693766 | C | G | 1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2992+483C>G | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63693766 | ||||||
chr20:63694259 | G | A | 1 | a0007c0008t0001g0026 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2993-113G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | 63694259 | ||||||
chr20:63694512 | C | T | 1 | a0001c0016t0002g0023 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3109+24C>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 31/34 | chr20 | 63694512 | ||||||
chr20:63694616 | G | C | 1 | a0001c0001t0001g0052 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3110-125G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 31/34 | chr20 | 63694616 | ||||||
chr20:63695008 | G | C | 1 | a0001c0001t0001g0035 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.3343+34G>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 32/34 | chr20 | 63695008 | ||||||
chr20:63695226 | G | T | 2 | a0001c0007t0002g0012a0001c0012t0002g0005 | 2 | HG01069.hp2 HG01258.hp1 |
splice_region_variant&intron_variant | LOW | c.3499+5G>T | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 33/34 | chr20 | 63695226 | ||||||
chr20:63695236 | T | C | 1 | a0002c0015t0004g0004 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3499+15T>C | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 33/34 | chr20 | 63695236 | ||||||
chr20:63695751 | G | A | 1 | a0001c0001t0002g0013 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.3823-27G>A | RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 34/34 | chr20 | 63695751 |